Journal Article
. 2014 Sep; 345(6204):1623-1627.
doi: 10.1126/science.1255904.

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

Hye Sun Kuehn 1 Weiming Ouyang 2 Bernice Lo 3 Elissa K Deenick 4 Julie E Niemela 1 Danielle T Avery 4 Jean-Nicolas Schickel 5 Dat Q Tran 6 Jennifer Stoddard 1 Yu Zhang 7 David M Frucht 2 Bogdan Dumitriu 8 Phillip Scheinberg 8 Les R Folio 9 Cathleen A Frein 10 Susan Price 3 Christopher Koh 11 Theo Heller 11 Christine M Seroogy 12 Anna Huttenlocher 12 V Koneti Rao 3 Helen C Su 7 David Kleiner 13 Luigi D Notarangelo 14 Yajesh Rampertaap 15 Kenneth N Olivier 15 Joshua McElwee 16 Jason Hughes 16 Stefania Pittaluga 13 Joao B Oliveira 17 Eric Meffre 5 Thomas A Fleisher 1 Steven M Holland 7 Michael J Lenardo 3 Stuart G Tangye 4 Gulbu Uzel 15 
Affiliations
  • PMID: 25213377
  •     28 References
  •     318 citations

Abstract

Cytotoxic T lymphocyte antigen-4 (CTLA-4) is an inhibitory receptor found on immune cells. The consequences of mutations in CTLA4 in humans are unknown. We identified germline heterozygous mutations in CTLA4 in subjects with severe immune dysregulation from four unrelated families. Whereas Ctla4 heterozygous mice have no obvious phenotype, human CTLA4 haploinsufficiency caused dysregulation of FoxP3(+) regulatory T (Treg) cells, hyperactivation of effector T cells, and lymphocytic infiltration of target organs. Patients also exhibited progressive loss of circulating B cells, associated with an increase of predominantly autoreactive CD21(lo) B cells and accumulation of B cells in nonlymphoid organs. Inherited human CTLA4 haploinsufficiency demonstrates a critical quantitative role for CTLA-4 in governing T and B lymphocyte homeostasis.

Regulatory T cells: mechanisms of differentiation and function.
Steven Z Josefowicz, Li-Fan Lu, Alexander Y Rudensky.
Annu Rev Immunol, 2012 Jan 10; 30. PMID: 22224781    Free PMC article.
Highly Cited. Review.
Loss of CTLA-4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction, revealing a critical negative regulatory role of CTLA-4.
E A Tivol, F Borriello, +3 authors, A H Sharpe.
Immunity, 1995 Nov 01; 3(5). PMID: 7584144
Highly Cited.
Lymphoproliferation in CTLA-4-deficient mice is mediated by costimulation-dependent activation of CD4+ T cells.
C A Chambers, T J Sullivan, J P Allison.
Immunity, 1998 Jan 16; 7(6). PMID: 9430233
Highly Cited.
Control of peripheral T-cell tolerance and autoimmunity via the CTLA-4 and PD-1 pathways.
Brian T Fife, Jeffrey A Bluestone.
Immunol Rev, 2008 Sep 02; 224. PMID: 18759926
Highly Cited. Review.
Multistep pathogenesis of autoimmune disease.
Christopher C Goodnow.
Cell, 2007 Jul 17; 130(1). PMID: 17632054
Highly Cited. Review.
Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells.
Mirzokhid Rakhmanov, Baerbel Keller, +17 authors, Klaus Warnatz.
Proc Natl Acad Sci U S A, 2009 Aug 12; 106(32). PMID: 19666505    Free PMC article.
Highly Cited.
Anti-CTLA-4 antibody therapy: immune monitoring during clinical development of a novel immunotherapy.
Margaret K Callahan, Jedd D Wolchok, James P Allison.
Semin Oncol, 2010 Nov 16; 37(5). PMID: 21074063    Free PMC article.
Review.
Evidence for HIV-associated B cell exhaustion in a dysfunctional memory B cell compartment in HIV-infected viremic individuals.
Susan Moir, Jason Ho, +9 authors, Anthony S Fauci.
J Exp Med, 2008 Jul 16; 205(8). PMID: 18625747    Free PMC article.
Highly Cited.
Abatacept mechanism of action: concordance with its clinical profile.
Gabriel Herrero-Beaumont, María José Martínez Calatrava, Santos Castañeda.
Reumatol Clin, 2011 Nov 23; 8(2). PMID: 22104048
Review.
The Immune Tolerance Network at 10 years: tolerance research at the bedside.
Jeffrey A Bluestone, Hugh Auchincloss, +3 authors, Laurence A Turka.
Nat Rev Immunol, 2010 Oct 26; 10(11). PMID: 20972473
Review.
Advances in human B cell phenotypic profiling.
Denise A Kaminski, Chungwen Wei, +2 authors, Ignacio Sanz.
Front Immunol, 2012 Oct 23; 3. PMID: 23087687    Free PMC article.
Highly Cited.
Molecular mechanisms of T cell co-stimulation and co-inhibition.
Lieping Chen, Dallas B Flies.
Nat Rev Immunol, 2013 Mar 09; 13(4). PMID: 23470321    Free PMC article.
Highly Cited. Review.
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.
Hironori Ueda, Joanna M M Howson, +50 authors, Stephen C L Gough.
Nature, 2003 May 02; 423(6939). PMID: 12724780
Highly Cited.
Cancer regression and autoimmunity induced by cytotoxic T lymphocyte-associated antigen 4 blockade in patients with metastatic melanoma.
Giao Q Phan, James C Yang, +14 authors, Steven A Rosenberg.
Proc Natl Acad Sci U S A, 2003 Jun 27; 100(14). PMID: 12826605    Free PMC article.
Highly Cited.
Discovery of single-gene inborn errors of immunity by next generation sequencing.
Mary Ellen Conley, Jean-Laurent Casanova.
Curr Opin Immunol, 2014 Jun 03; 30. PMID: 24886697    Free PMC article.
Review.
Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4.
P Waterhouse, J M Penninger, +6 authors, T W Mak.
Science, 1995 Nov 10; 270(5238). PMID: 7481803
Highly Cited.
Autoimmunity correlates with tumor regression in patients with metastatic melanoma treated with anti-cytotoxic T-lymphocyte antigen-4.
Peter Attia, Giao Q Phan, +14 authors, Steven A Rosenberg.
J Clin Oncol, 2005 Aug 10; 23(25). PMID: 16087944    Free PMC article.
Highly Cited.
CTLA-4 control over Foxp3+ regulatory T cell function.
Kajsa Wing, Yasushi Onishi, +5 authors, Shimon Sakaguchi.
Science, 2008 Oct 11; 322(5899). PMID: 18845758
Highly Cited.
Regulatory T cells and immune tolerance.
Shimon Sakaguchi, Tomoyuki Yamaguchi, Takashi Nomura, Masahiro Ono.
Cell, 2008 May 31; 133(5). PMID: 18510923
Highly Cited. Review.
Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones.
Isabelle Isnardi, Yen-Shing Ng, +8 authors, Eric Meffre.
Blood, 2010 Mar 17; 115(24). PMID: 20231422    Free PMC article.
Highly Cited.
CTLA-4 engagement inhibits IL-2 accumulation and cell cycle progression upon activation of resting T cells.
M F Krummel, J P Allison.
J Exp Med, 1996 Jun 01; 183(6). PMID: 8676074    Free PMC article.
Highly Cited.
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.
Susan Price, Pamela A Shaw, +15 authors, Michael J Lenardo.
Blood, 2014 Jan 09; 123(13). PMID: 24398331    Free PMC article.
Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease.
Klaus Warnatz, Axel Denz, +6 authors, Hans Hartmut Peter.
Blood, 2002 Feb 28; 99(5). PMID: 11861266
Highly Cited.
A new role of CTLA-4 on B cells in thymus-dependent immune responses in vivo.
Dagmar Quandt, Holger Hoff, +2 authors, Monika C Brunner-Weinzierl.
J Immunol, 2007 Nov 21; 179(11). PMID: 18025174
Breakdown of self-tolerance in anergic B lymphocytes.
C C Goodnow, R Brink, E Adams.
Nature, 1991 Aug 08; 352(6335). PMID: 1830923
Highly Cited.
Accumulation of peripheral autoreactive B cells in the absence of functional human regulatory T cells.
Tuure Kinnunen, Nicolas Chamberlain, +10 authors, Eric Meffre.
Blood, 2012 Dec 12; 121(9). PMID: 23223361    Free PMC article.
Trans-endocytosis of CD80 and CD86: a molecular basis for the cell-extrinsic function of CTLA-4.
Omar S Qureshi, Yong Zheng, +12 authors, David M Sansom.
Science, 2011 Apr 09; 332(6029). PMID: 21474713    Free PMC article.
Highly Cited.
Treg cells, life history, and diversity.
Christophe Benoist, Diane Mathis.
Cold Spring Harb Perspect Biol, 2012 Sep 07; 4(9). PMID: 22952391    Free PMC article.
Review.
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
Desirée Schubert, Claudia Bode, +37 authors, Bodo Grimbacher.
Nat Med, 2014 Oct 21; 20(12). PMID: 25329329    Free PMC article.
Highly Cited.
Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4.
Sebastian Zeissig, Britt-Sabina Petersen, +11 authors, Richard S Blumberg.
Gut, 2014 Nov 05; 64(12). PMID: 25367873    Free PMC article.
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.
Polina Stepensky, Anne Rensing-Ehl, +17 authors, Stephan Ehl.
Blood, 2014 Nov 22; 125(5). PMID: 25414442    Free PMC article.
Balance and imbalance in the immune system: life on the edge.
Suzanne L Topalian, Arlene H Sharpe.
Immunity, 2014 Dec 18; 41(5). PMID: 25517610    Free PMC article.
Clinical genetics in 2014: New monogenic diseases span the immunological disease continuum.
Sinisa Savic, Michael F McDermott.
Nat Rev Rheumatol, 2014 Dec 24; 11(2). PMID: 25536483
Diverse mechanisms regulate the surface expression of immunotherapeutic target ctla-4.
Helga Schneider, Christopher E Rudd.
Front Immunol, 2014 Dec 30; 5. PMID: 25538704    Free PMC article.
Review.
Common variable immunodeficiency (CVID): new genetic insight and unanswered questions.
H D Ochs.
Clin Exp Immunol, 2014 Dec 30; 178 Suppl 1. PMID: 25546742    Free PMC article.
Confusing signals: recent progress in CTLA-4 biology.
Lucy S K Walker, David M Sansom.
Trends Immunol, 2015 Jan 15; 36(2). PMID: 25582039    Free PMC article.
Highly Cited. Review.
Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.
Bertrand Boisson, Pierre Quartier, Jean-Laurent Casanova.
Curr Opin Immunol, 2015 Feb 04; 32. PMID: 25645939    Free PMC article.
Review.
Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings.
Julie Niemela, Hye Sun Kuehn, +8 authors, Sergio D Rosenzweig.
J Clin Immunol, 2015 Mar 31; 35(4). PMID: 25814141    Free PMC article.
Vitamin D Actions on CD4(+) T Cells in Autoimmune Disease.
Colleen Elizabeth Hayes, Shane L Hubler, +3 authors, Faye E Nashold.
Front Immunol, 2015 Apr 09; 6. PMID: 25852682    Free PMC article.
Review.
Novel primary immunodeficiency candidate genes predicted by the human gene connectome.
Yuval Itan, Jean-Laurent Casanova.
Front Immunol, 2015 Apr 18; 6. PMID: 25883595    Free PMC article.
Mechanisms of human autoimmunity.
Michael D Rosenblum, Kelly A Remedios, Abul K Abbas.
J Clin Invest, 2015 Apr 22; 125(6). PMID: 25893595    Free PMC article.
Highly Cited. Review.
Inborn errors in immunity: unique natural models to dissect oral immunity.
N M Moutsopoulos, M S Lionakis, G Hajishengallis.
J Dent Res, 2015 Apr 23; 94(6). PMID: 25900229    Free PMC article.
Review.
Genomics of immune response to typhoid and cholera vaccines.
Partha P Majumder.
Philos Trans R Soc Lond B Biol Sci, 2015 May 13; 370(1671). PMID: 25964454    Free PMC article.
Genetic basis of autoimmunity.
Alexander Marson, William J Housley, David A Hafler.
J Clin Invest, 2015 Jun 02; 125(6). PMID: 26030227    Free PMC article.
Review.
Heterogeneity of autoimmune diseases: pathophysiologic insights from genetics and implications for new therapies.
Judy H Cho, Marc Feldman.
Nat Med, 2015 Jun 30; 21(7). PMID: 26121193    Free PMC article.
Highly Cited. Review.
Vitamin D Antagonises the Suppressive Effect of Inflammatory Cytokines on CTLA-4 Expression and Regulatory Function.
Louisa E Jeffery, Omar S Qureshi, +6 authors, David M Sansom.
PLoS One, 2015 Jul 03; 10(7). PMID: 26134669    Free PMC article.
Granulomatous and lymphocytic interstitial lung disease: a spectrum of pulmonary histopathologic lesions in common variable immunodeficiency--histologic and immunohistochemical analyses of 16 cases.
Nagarjun Rao, A Craig Mackinnon, John M Routes.
Hum Pathol, 2015 Jul 04; 46(9). PMID: 26138782    Free PMC article.
Immunotherapy and hypophysitis: clinical presentation, treatment, and biologic insights.
Alexander Faje.
Pituitary, 2015 Jul 19; 19(1). PMID: 26186958
Highly Cited. Review.
Newly recognized Mendelian disorders with rheumatic manifestations.
Adriana Almeida de Jesus, Raphaela Goldbach-Mansky.
Curr Opin Rheumatol, 2015 Jul 22; 27(5). PMID: 26196376    Free PMC article.
Review.
Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome.
V Koneti Rao.
Front Pediatr, 2015 Aug 11; 3. PMID: 26258116    Free PMC article.
Review.
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.
Manfred Fliegauf, Vanessa L Bryant, +19 authors, Bodo Grimbacher.
Am J Hum Genet, 2015 Aug 19; 97(3). PMID: 26279205    Free PMC article.
Highly Cited.
Immune related adverse events associated with anti-CTLA-4 antibodies: systematic review and meta-analysis.
Anne Bertrand, Marie Kostine, +2 authors, Thierry Schaeverbeke.
BMC Med, 2015 Sep 05; 13. PMID: 26337719    Free PMC article.
Highly Cited. Systematic Review.
Progression of Common Variable Immunodeficiency Interstitial Lung Disease Accompanies Distinct Pulmonary and Laboratory Findings.
Paul J Maglione, Jessica R Overbey, Charlotte Cunningham-Rundles.
J Allergy Clin Immunol Pract, 2015 Sep 16; 3(6). PMID: 26372540    Free PMC article.
Genomics is rapidly advancing precision medicine for immunological disorders.
Yu Zhang, Helen C Su, Michael J Lenardo.
Nat Immunol, 2015 Sep 19; 16(10). PMID: 26382860
Identifying genetic determinants of autoimmunity and immune dysregulation.
Carrie L Lucas, Michael J Lenardo.
Curr Opin Immunol, 2015 Oct 05; 37. PMID: 26433354    Free PMC article.
Review.
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.
M Elgizouli, D M Lowe, +12 authors, B Grimbacher.
Clin Exp Immunol, 2015 Oct 07; 183(2). PMID: 26437962    Free PMC article.
Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial.
Karen L Bride, Tiffaney Vincent, +7 authors, David T Teachey.
Blood, 2015 Oct 28; 127(1). PMID: 26504182    Free PMC article.
International Consensus Document (ICON): Common Variable Immunodeficiency Disorders.
Francisco A Bonilla, Isil Barlan, +10 authors, Klaus Warnatz.
J Allergy Clin Immunol Pract, 2015 Nov 14; 4(1). PMID: 26563668    Free PMC article.
Highly Cited.
CTLA-4 and Autoimmunity: New Twists in the Tale.
Lucy S K Walker.
Trends Immunol, 2015 Nov 26; 36(12). PMID: 26596798    Free PMC article.
The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome.
István Bartha, Antonio Rausell, +5 authors, Amalio Telenti.
PLoS Comput Biol, 2015 Dec 08; 11(12). PMID: 26642228    Free PMC article.
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Qing Zhou, Hongying Wang, +38 authors, Ivona Aksentijevich.
Nat Genet, 2015 Dec 08; 48(1). PMID: 26642243    Free PMC article.
Highly Cited.
A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.
Seiichi Hayakawa, Satoshi Okada, +7 authors, Masao Kobayashi.
J Clin Immunol, 2015 Dec 09; 36(1). PMID: 26644313
Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?
Markus G Seidel, Kaan Boztug, Oskar A Haas.
J Clin Immunol, 2015 Dec 15; 36(1). PMID: 26661331
Spectrum of Phenotypes Associated with Mutations in LRBA.
Omar K Alkhairy, Hassan Abolhassani, +10 authors, Lennart Hammarström.
J Clin Immunol, 2015 Dec 29; 36(1). PMID: 26707784
Highly Cited. Review.
Genomics of Immune Diseases and New Therapies.
Michael Lenardo, Bernice Lo, Carrie L Lucas.
Annu Rev Immunol, 2016 Jan 07; 34. PMID: 26735698    Free PMC article.
Review.
Cancer Immunotherapy with Anti-CTLA-4 Monoclonal Antibodies Induces an Inflammatory Bowel Disease.
L Marthey, C Mateus, +16 authors, F Carbonnel.
J Crohns Colitis, 2016 Jan 20; 10(4). PMID: 26783344    Free PMC article.
Highly Cited.
An eMERGE Clinical Center at Partners Personalized Medicine.
Jordan W Smoller, Elizabeth W Karlson, +5 authors, Scott T Weiss.
J Pers Med, 2016 Jan 26; 6(1). PMID: 26805891    Free PMC article.
Frequent CTLA4-CD28 gene fusion in diverse types of T-cell lymphoma.
Hae Yong Yoo, Pora Kim, +9 authors, Sanghyuk Lee.
Haematologica, 2016 Jan 29; 101(6). PMID: 26819049    Free PMC article.
Autoimmune and Lymphoproliferative Complications of Common Variable Immunodeficiency.
Paul J Maglione.
Curr Allergy Asthma Rep, 2016 Feb 10; 16(3). PMID: 26857017
Review.
Editorial: Current Challenges in Immune and Other Acquired Cytopenias of Childhood.
Sujal Ghosh, Markus G Seidel.
Front Pediatr, 2016 Feb 13; 4. PMID: 26870718    Free PMC article.
T Regulatory Cell Biology in Health and Disease.
Fayhan J Alroqi, Talal A Chatila.
Curr Allergy Asthma Rep, 2016 Mar 01; 16(4). PMID: 26922942    Free PMC article.
Review.
AIRE expands: new roles in immune tolerance and beyond.
Mark S Anderson, Maureen A Su.
Nat Rev Immunol, 2016 Mar 15; 16(4). PMID: 26972725    Free PMC article.
Highly Cited. Review.
Dendritic Cell-Secreted Cytotoxic T-Lymphocyte-Associated Protein-4 Regulates the T-cell Response by Downmodulating Bystander Surface B7.
Matthew M Halpert, Vanaja Konduri, +5 authors, William K Decker.
Stem Cells Dev, 2016 Mar 17; 25(10). PMID: 26979751    Free PMC article.
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
H S Kuehn, B Boisson, +28 authors, S D Rosenzweig.
N Engl J Med, 2016 Mar 18; 374(11). PMID: 26981933    Free PMC article.
Highly Cited.
Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.
Timothy J Vece, Levi B Watkin, +10 authors, Jordan S Orange.
J Clin Immunol, 2016 Apr 07; 36(4). PMID: 27048656    Free PMC article.
Review.
A Metabolic Immune Checkpoint: Adenosine in Tumor Microenvironment.
Akio Ohta.
Front Immunol, 2016 Apr 12; 7. PMID: 27066002    Free PMC article.
Highly Cited. Review.
Induction of autoimmune disease by deletion of CTLA-4 in mice in adulthood.
Katrin Klocke, Shimon Sakaguchi, Rikard Holmdahl, Kajsa Wing.
Proc Natl Acad Sci U S A, 2016 Apr 14; 113(17). PMID: 27071130    Free PMC article.
Highly Cited.
Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.
Bianca Tesi, Peter Priftakis, +8 authors, Marie Meeths.
J Clin Immunol, 2016 May 06; 36(5). PMID: 27146671
Maturational characteristics of HIV-specific antibodies in viremic individuals.
Eric Meffre, Aaron Louie, +13 authors, Susan Moir.
JCI Insight, 2016 May 07; 1(3). PMID: 27152362    Free PMC article.
T-cell abnormalities in common variable immunodeficiency: the hidden defect.
Gabriel K Wong, Aarnoud P Huissoon.
J Clin Pathol, 2016 May 08; 69(8). PMID: 27153873    Free PMC article.
Review.
Coinhibitory Pathways in the B7-CD28 Ligand-Receptor Family.
Frank A Schildberg, Sarah R Klein, Gordon J Freeman, Arlene H Sharpe.
Immunity, 2016 May 19; 44(5). PMID: 27192563    Free PMC article.
Highly Cited. Review.
CD28 Costimulation: From Mechanism to Therapy.
Jonathan H Esensten, Ynes A Helou, +2 authors, Jeffrey A Bluestone.
Immunity, 2016 May 19; 44(5). PMID: 27192564    Free PMC article.
Highly Cited. Review.
Autoimmunity and Primary Immunodeficiency Disorders.
Eric Allenspach, Troy R Torgerson.
J Clin Immunol, 2016 May 24; 36 Suppl 1. PMID: 27210535
Review.
Rare variants, autoimmune disease, and arthritis.
Sharon A Chung, Anthony K Shum.
Curr Opin Rheumatol, 2016 May 26; 28(4). PMID: 27224741    Free PMC article.
Review.
Predispositions to Lymphoma: A Practical Review for Genetic Counselors.
Morgan Similuk, V Koneti Rao, Jane Churpek, Michael Lenardo.
J Genet Couns, 2016 Jun 07; 25(6). PMID: 27265405
Review.
Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort.
Chuen-Yen Lau, Andrew D Mihalek, +8 authors, Kenneth N Olivier.
Ann Am Thorac Soc, 2016 Jun 09; 13(8). PMID: 27268092    Free PMC article.
Severe acute interstitial nephritis after combination immune-checkpoint inhibitor therapy for metastatic melanoma.
Naoka Murakami, Thiago J Borges, Michifumi Yamashita, Leonardo V Riella.
Clin Kidney J, 2016 Jun 09; 9(3). PMID: 27274826    Free PMC article.
Unintended Immunological Consequences of Biologic Therapy.
Sarah E Henrickson, Melanie A Ruffner, Mildred Kwan.
Curr Allergy Asthma Rep, 2016 Jun 22; 16(6). PMID: 27324478    Free PMC article.
Review.
NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.
Heidrun Boztug, Tatjana Hirschmugl, +6 authors, Kaan Boztug.
J Clin Immunol, 2016 Jun 25; 36(6). PMID: 27338827    Free PMC article.
Old and new faces of neutropenia in children.
Carlo Dufour, Maurizio Miano, Francesca Fioredda.
Haematologica, 2016 Jul 02; 101(7). PMID: 27365457    Free PMC article.
Immunogenetics of cutaneous lupus erythematosus.
Aimee O Hersh, Lisa M Arkin, Sampath Prahalad.
Curr Opin Pediatr, 2016 Jul 09; 28(4). PMID: 27386968    Free PMC article.
Review.
CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.
Bernice Lo, Jill M Fritz, +3 authors, Michael J Lenardo.
Blood, 2016 Jul 16; 128(8). PMID: 27418640    Free PMC article.
Review.
Phenotypic and Functional Comparison of Class Switch Recombination Deficiencies with a Subgroup of Common Variable Immunodeficiencies.
Daan J Aan de Kerk, Machiel H Jansen, +5 authors, Taco W Kuijpers.
J Clin Immunol, 2016 Aug 04; 36(7). PMID: 27484504    Free PMC article.
Rare phenotypes in the understanding of autoimmunity.
Yvonne Zeissig, Britt-Sabina Petersen, +2 authors, Sebastian Zeissig.
Immunol Cell Biol, 2016 Aug 27; 94(10). PMID: 27562064    Free PMC article.
Review.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, +90 authors, James R Lupski.
J Allergy Clin Immunol, 2016 Sep 01; 139(1). PMID: 27577878    Free PMC article.
Highly Cited.
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Elise M N Ferre, Stacey R Rose, +41 authors, Michail S Lionakis.
JCI Insight, 2016 Sep 03; 1(13). PMID: 27588307    Free PMC article.
Highly Cited.
The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives.
Delfien J A Bogaert, Marieke De Bruyne, +11 authors, Melissa Dullaers.
Haematologica, 2016 Sep 17; 102(1). PMID: 27634199    Free PMC article.
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
Yi Wang, Cindy S Ma, +33 authors, Jean-Laurent Casanova.
J Exp Med, 2016 Nov 05; 213(11). PMID: 27647349    Free PMC article.
Genetic cause of immune dysregulation - one gene or two?
Stuart G Tangye.
J Clin Invest, 2016 Nov 02; 126(11). PMID: 27760052    Free PMC article.
Unbalanced Immune System: Immunodeficiencies and Autoimmunity.
Giuliana Giardino, Vera Gallo, +10 authors, Claudio Pignata.
Front Pediatr, 2016 Oct 22; 4. PMID: 27766253    Free PMC article.
Review.
Lung Disease in Primary Antibody Deficiencies.
Edith Schussler, Mary B Beasley, Paul J Maglione.
J Allergy Clin Immunol Pract, 2016 Nov 12; 4(6). PMID: 27836055    Free PMC article.
Review.
Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies.
Jolan E Walter, Jocelyn R Farmer, +2 authors, Megan A Cooper.
J Allergy Clin Immunol Pract, 2016 Nov 12; 4(6). PMID: 27836058    Free PMC article.
Review.
Checkpoint Proteins in Pediatric Brain and Extracranial Solid Tumors: Opportunities for Immunotherapy.
Eric K Ring, James M Markert, G Yancey Gillespie, Gregory K Friedman.
Clin Cancer Res, 2016 Nov 12; 23(2). PMID: 27836863    Free PMC article.
Review.
Regulatory T cells in cancer immunotherapy.
Atsushi Tanaka, Shimon Sakaguchi.
Cell Res, 2016 Dec 21; 27(1). PMID: 27995907    Free PMC article.
Highly Cited. Review.
Immunopathogenesis of granulomas in chronic autoinflammatory diseases.
Wilhelmina Maria Cornelia Timmermans, Jan Alexander Michael van Laar, Petrus Martinus van Hagen, Menno Cornelis van Zelm.
Clin Transl Immunology, 2017 Jan 17; 5(12). PMID: 28090320    Free PMC article.
Review.
Inflammatory bowel disease and cancer response due to anti-CTLA-4: is it in the flora?
Franck Carbonnel, Emilie Soularue, +4 authors, Caroline Robert.
Semin Immunopathol, 2017 Jan 18; 39(3). PMID: 28093620
Review.
CTLA-4 polymorphisms associate with breast cancer susceptibility in Asians: a meta-analysis.
Zhiming Dai, Tian Tian, +9 authors, Zhijun Dai.
PeerJ, 2017 Jan 18; 5. PMID: 28097051    Free PMC article.
The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency.
Hatice Ezgi Barış, Ayça Kıykım, +3 authors, Safa Barış.
Turk Pediatri Ars, 2017 Jan 27; 51(4). PMID: 28123330    Free PMC article.
Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.
Katja G Weinacht, Louis-Marie Charbonnier, +11 authors, Talal A Chatila.
J Allergy Clin Immunol, 2017 Feb 01; 139(5). PMID: 28139313    Free PMC article.
Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.
Tie Zheng Hou, Nisha Verma, +17 authors, David M Sansom.
Blood, 2017 Feb 06; 129(11). PMID: 28159733    Free PMC article.
Renal complications of immune checkpoint blockade.
Naoka Murakami, Shveta Motwani, Leonardo V Riella.
Curr Probl Cancer, 2017 Feb 13; 41(2). PMID: 28189263    Free PMC article.
Review.
Opportunities and challenges of whole-genome and -exome sequencing.
Britt-Sabina Petersen, Broder Fredrich, +2 authors, Andre Franke.
BMC Genet, 2017 Feb 15; 18(1). PMID: 28193154    Free PMC article.
Highly Cited. Review.
Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.
Luigi D Notarangelo, Thomas A Fleisher.
J Allergy Clin Immunol, 2017 Mar 09; 139(3). PMID: 28270363    Free PMC article.
Review.
Genetics of primary sclerosing cholangitis and pathophysiological implications.
Xiaojun Jiang, Tom H Karlsen.
Nat Rev Gastroenterol Hepatol, 2017 Mar 16; 14(5). PMID: 28293027
Review.
Quality of TCR signaling determined by differential affinities of enhancers for the composite BATF-IRF4 transcription factor complex.
Arifumi Iwata, Vivek Durai, +6 authors, Kenneth M Murphy.
Nat Immunol, 2017 Mar 28; 18(5). PMID: 28346410    Free PMC article.
Highly Cited.
Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant.
Michael Alexander Weinreich, Tiphanie P Vogel, V Koneti Rao, Joshua D Milner.
Front Pediatr, 2017 Mar 30; 5. PMID: 28349047    Free PMC article.
CTLA-4 haploinsufficiency in a patient with an autoimmune lymphoproliferative disorder.
Zeynep Yesim Kucuk, Louis-Marie Charbonnier, +2 authors, Jack J Bleesing.
J Allergy Clin Immunol, 2017 Apr 04; 140(3). PMID: 28366794    Free PMC article.
Treatment of Pediatric Acute Graft-versus-Host Disease-Lessons from Primary Immunodeficiency?
Aisling M Flinn, Andrew R Gennery.
Front Immunol, 2017 Apr 06; 8. PMID: 28377772    Free PMC article.
Review.
Studying human immunodeficiencies in humans: advances in fundamental concepts and therapeutic interventions.
Helen Su.
F1000Res, 2017 Apr 15; 6. PMID: 28408979    Free PMC article.
Review.
Immune Checkpoint in Glioblastoma: Promising and Challenging.
Jing Huang, Fangkun Liu, +4 authors, Jindong Chen.
Front Pharmacol, 2017 May 26; 8. PMID: 28536525    Free PMC article.
Highly Cited. Review.
Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations.
N Verma, S O Burns, L S K Walker, D M Sansom.
Clin Exp Immunol, 2017 Jun 11; 190(1). PMID: 28600865    Free PMC article.
Review.
Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation.
Fayhan J Alroqi, Louis-Marie Charbonnier, +10 authors, Talal A Chatila.
J Allergy Clin Immunol, 2017 Jun 12; 141(3). PMID: 28601686    Free PMC article.
Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation.
Deborah L Burnett, Ian A Parish, +2 authors, Christopher C Goodnow.
Immunol Cell Biol, 2017 Jun 15; 95(9). PMID: 28611475    Free PMC article.
Concurrent OX40 and CD30 Ligand Blockade Abrogates the CD4-Driven Autoimmunity Associated with CTLA4 and PD1 Blockade while Preserving Excellent Anti-CD8 Tumor Immunity.
Maher G Nawaf, Maria H Ulvmar, +7 authors, Peter J L Lane.
J Immunol, 2017 Jun 25; 199(3). PMID: 28646041    Free PMC article.
Significant augmentation of regulatory T cell numbers occurs during the early neonatal period.
S Hayakawa, N Ohno, S Okada, M Kobayashi.
Clin Exp Immunol, 2017 Jul 06; 190(2). PMID: 28677152    Free PMC article.
Hypophysitis: Evaluation and Management.
Alexander Faje.
Clin Diabetes Endocrinol, 2017 Jul 14; 2. PMID: 28702249    Free PMC article.
Review.
Cells with Treg-specific FOXP3 demethylation but low CD25 are prevalent in autoimmunity.
Ricardo C Ferreira, Henry Z Simons, +16 authors, Marcin L Pekalski.
J Autoimmun, 2017 Jul 28; 84. PMID: 28747257    Free PMC article.
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
Hye Sun Kuehn, Julie E Niemela, +11 authors, Sergio D Rosenzweig.
Blood, 2017 Aug 06; 130(13). PMID: 28778864    Free PMC article.
Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.
Michael Seleman, Rodrigo Hoyos-Bachiloglu, Raif S Geha, Janet Chou.
Front Immunol, 2017 Aug 10; 8. PMID: 28791010    Free PMC article.
Review.
Regulatory T cells in acute and chronic kidney diseases.
Rahul Sharma, Gilbert R Kinsey.
Am J Physiol Renal Physiol, 2017 Sep 08; 314(5). PMID: 28877881    Free PMC article.
Review.
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.
William Rae, Daniel Ward, +6 authors, Anthony P Williams.
Clin Transl Immunology, 2017 Oct 07; 6(9). PMID: 28983403    Free PMC article.
Dysregulation of Innate Lymphoid Cells in Common Variable Immunodeficiency.
Paul J Maglione, Montserrat Cols, Charlotte Cunningham-Rundles.
Curr Allergy Asthma Rep, 2017 Oct 07; 17(11). PMID: 28983810    Free PMC article.
Review.
Autoimmune enteropathies.
Sarah E Umetsu, Ian Brown, Cord Langner, Gregory Y Lauwers.
Virchows Arch, 2017 Oct 13; 472(1). PMID: 29022145
Review.
DOCK8 Deficiency Presenting as an IPEX-Like Disorder.
Fayhan J Alroqi, Louis-Marie Charbonnier, +10 authors, Talal A Chatila.
J Clin Immunol, 2017 Oct 24; 37(8). PMID: 29058101    Free PMC article.
Human gene essentiality.
István Bartha, Julia di Iulio, J Craig Venter, Amalio Telenti.
Nat Rev Genet, 2017 Oct 31; 19(1). PMID: 29082913
Highly Cited. Review.
Immune checkpoint inhibitors: new strategies to checkmate cancer.
R A M Wilson, T R J Evans, A R Fraser, R J B Nibbs.
Clin Exp Immunol, 2017 Nov 16; 191(2). PMID: 29139554    Free PMC article.
Review.
Clinical Challenges: Identification of Patients With Novel Primary Immunodeficiency Syndromes.
David Buchbinder, Mikko Seppanen, +2 authors, Diane Nugent.
J Pediatr Hematol Oncol, 2017 Dec 05; 40(5). PMID: 29200144    Free PMC article.
Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.
Maria Francisca Moraes-Fontes, Amy P Hsu, +7 authors, Gulbu Uzel.
Clin Case Rep, 2017 Dec 12; 5(12). PMID: 29225858    Free PMC article.
Checkpoint Blockade Toxicity and Immune Homeostasis in the Gastrointestinal Tract.
Michael Dougan.
Front Immunol, 2017 Dec 13; 8. PMID: 29230210    Free PMC article.
Highly Cited. Review.
Autoimmunity and primary immunodeficiency: two sides of the same coin?
Reinhold E Schmidt, Bodo Grimbacher, Torsten Witte.
Nat Rev Rheumatol, 2017 Dec 20; 14(1). PMID: 29255211
Review.
Insights from human genetic studies of lung and organ fibrosis.
Christine Kim Garcia.
J Clin Invest, 2018 Jan 03; 128(1). PMID: 29293091    Free PMC article.
Review.
Early B cell changes predict autoimmunity following combination immune checkpoint blockade.
Rituparna Das, Noffar Bar, +10 authors, Kavita M Dhodapkar.
J Clin Invest, 2018 Jan 09; 128(2). PMID: 29309048    Free PMC article.
Highly Cited.
Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency.
Elissa K Deenick, Adrienne Morey, +13 authors, Tri G Phan.
J Clin Immunol, 2018 Jan 20; 38(2). PMID: 29350338
Initiation of inflammatory tumorigenesis by CTLA4 insufficiency due to type 2 cytokines.
Jason Miska, Jen Bon Lui, +7 authors, Zhibin Chen.
J Exp Med, 2018 Jan 28; 215(3). PMID: 29374027    Free PMC article.
Common Variable Immunodeficiency Non-Infectious Disease Endotypes Redefined Using Unbiased Network Clustering in Large Electronic Datasets.
Jocelyn R Farmer, Mei-Sing Ong, +6 authors, Jolan E Walter.
Front Immunol, 2018 Jan 30; 8. PMID: 29375540    Free PMC article.
An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome.
Heiko Sic, Matthaios Speletas, +12 authors, Hermann Eibel.
Front Immunol, 2018 Jan 30; 8. PMID: 29375547    Free PMC article.
Granulomatous-Lymphocytic Interstitial Lung Disease in 22q11.2 Deletion Syndrome: a Case Report and Literature Review.
Amika K Sood, William Funkhouser, +2 authors, Eveline Y Wu.
Curr Allergy Asthma Rep, 2018 Feb 23; 18(3). PMID: 29470661    Free PMC article.
Review.
Human FOXP3+ T regulatory cell heterogeneity.
Audrey Mohr, Rajneesh Malhotra, +2 authors, Makoto Miyara.
Clin Transl Immunology, 2018 Feb 28; 7(1). PMID: 29484183    Free PMC article.
Highly Cited. Review.
Multimedia-enhanced Radiology Reports: Concept, Components, and Challenges.
Les R Folio, Laura B Machado, Andrew J Dwyer.
Radiographics, 2018 Mar 13; 38(2). PMID: 29528822    Free PMC article.
Review.
Anti-CTLA-4 therapy requires an Fc domain for efficacy.
Jessica R Ingram, Olga S Blomberg, +15 authors, Michael Dougan.
Proc Natl Acad Sci U S A, 2018 Mar 28; 115(15). PMID: 29581255    Free PMC article.
Highly Cited.
Toxicological and pharmacological assessment of AGEN1884, a novel human IgG1 anti-CTLA-4 antibody.
Randi B Gombos, Ana Gonzalez, +24 authors, Nicholas S Wilson.
PLoS One, 2018 Apr 05; 13(4). PMID: 29617360    Free PMC article.
Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked.
Jacob M Rosenberg, Maria E Maccari, +6 authors, Rosa Bacchetta.
Front Immunol, 2018 Apr 14; 9. PMID: 29651287    Free PMC article.
Use of Genetic Testing for Primary Immunodeficiency Patients.
Jennifer R Heimall, David Hagin, +16 authors, Roshini S Abraham.
J Clin Immunol, 2018 Apr 21; 38(3). PMID: 29675737
Review.
Nuclear Factor-kappaB in Autoimmunity: Man and Mouse.
Bahar Miraghazadeh, Matthew C Cook.
Front Immunol, 2018 Apr 25; 9. PMID: 29686669    Free PMC article.
Review.
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Charlotte Schwab, Annemarie Gabrysch, +78 authors, Bodo Grimbacher.
J Allergy Clin Immunol, 2018 May 08; 142(6). PMID: 29729943    Free PMC article.
Highly Cited.
Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases.
Stella Hartono, Michelina Rosa Ippoliti, +2 authors, Nicholas L Rider.
Clin Rev Allergy Immunol, 2018 May 14; 57(2). PMID: 29754192
Review.
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.
Shintaro Ono, Manabu Nakayama, +18 authors, Tomohiro Morio.
Int J Hematol, 2018 May 20; 108(3). PMID: 29777376
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.
Fabienne Charbit-Henrion, Marianna Parlato, +66 authors, Nadine Cerf-Bensussan.
J Crohns Colitis, 2018 May 23; 12(9). PMID: 29788237    Free PMC article.
Treatment of Intracerebral Lesions with Abatacept in a CTLA4-Haploinsufficient Patient.
Ester M van Leeuwen, Eloy Cuadrado, +2 authors, Godelieve J de Bree.
J Clin Immunol, 2018 May 26; 38(4). PMID: 29796761
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.
Daniel Eriksson, Matteo Bianchi, +20 authors, Olle Kämpe.
Sci Rep, 2018 Jun 01; 8(1). PMID: 29849176    Free PMC article.
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
Guillem de Valles-Ibáñez, Ana Esteve-Solé, +24 authors, Ferran Casals.
Front Immunol, 2018 Jun 06; 9. PMID: 29867916    Free PMC article.
Highly Cited.
"Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.
Sophie Jung, Laura Gámez-Díaz, Michele Proietti, Bodo Grimbacher.
Front Immunol, 2018 Jun 06; 9. PMID: 29867948    Free PMC article.
Review.
The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies.
Dror S Shouval, Matthew Kowalik, Scott B Snapper.
J Clin Immunol, 2018 Jun 30; 38(5). PMID: 29956079
Review.
CTLA-4 +49 G/A, a functional T1D risk SNP, affects CTLA-4 level in Treg subsets and IA-2A positivity, but not beta-cell function.
Yang Chen, Shu Chen, +13 authors, Tao Yang.
Sci Rep, 2018 Jul 06; 8(1). PMID: 29973665    Free PMC article.
Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.
Cristiane de Jesus Nunes-Santos, Sergio D Rosenzweig.
Front Immunol, 2018 Jul 11; 9. PMID: 29988375    Free PMC article.
Review.
Regulatory Role of CD4+ T Cells in Myocarditis.
Daria Vdovenko, Urs Eriksson.
J Immunol Res, 2018 Jul 24; 2018. PMID: 30035131    Free PMC article.
Review.
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.
Carole Le Coz, Brian E Nolan, +9 authors, Neil Romberg.
Front Immunol, 2018 Aug 09; 9. PMID: 30087679    Free PMC article.
The Lung in Primary Immunodeficiencies: New Concepts in Infection and Inflammation.
Ulrich Baumann, John M Routes, Pere Soler-Palacín, Stephen Jolles.
Front Immunol, 2018 Aug 28; 9. PMID: 30147696    Free PMC article.
Review.
Endocrine Toxicity of Cancer Immunotherapy Targeting Immune Checkpoints.
Lee-Shing Chang, Romualdo Barroso-Sousa, +3 authors, Le Min.
Endocr Rev, 2018 Sep 06; 40(1). PMID: 30184160    Free PMC article.
Review.
Characterization of CTLA4 Trafficking and Implications for Its Function.
Sahamoddin Khailaie, Behzad Rowshanravan, +6 authors, Michael Meyer-Hermann.
Biophys J, 2018 Sep 17; 115(7). PMID: 30219287    Free PMC article.
Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.
Mary Scott Roberts, Peter D Burbelo, +8 authors, Rachel I Gafni.
J Clin Invest, 2018 Sep 19; 128(12). PMID: 30226830    Free PMC article.
Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers.
David Egg, Charlotte Schwab, +19 authors, Bodo Grimbacher.
Front Immunol, 2018 Sep 27; 9. PMID: 30250467    Free PMC article.
On the Road to Immunotherapy-Prospects for Treating Head and Neck Cancers With Checkpoint Inhibitor Antibodies.
Frank J Ward, Lekh N Dahal, Rasha Abu-Eid.
Front Immunol, 2018 Oct 16; 9. PMID: 30319637    Free PMC article.
Review.
Immune Checkpoints as Therapeutic Targets in Autoimmunity.
Christopher Paluch, Ana Mafalda Santos, +2 authors, Simon J Davis.
Front Immunol, 2018 Oct 24; 9. PMID: 30349540    Free PMC article.
Review.
Recent advances in immunotherapies: from infection and autoimmunity, to cancer, and back again.
Samantha L Bucktrout, Jeffrey A Bluestone, Fred Ramsdell.
Genome Med, 2018 Nov 01; 10(1). PMID: 30376867    Free PMC article.
Review.
Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency.
Leisa Rebecca Watson, Charlotte A Slade, +9 authors, Michael Sze Yuan Low.
Allergy Asthma Clin Immunol, 2018 Nov 01; 14. PMID: 30377434    Free PMC article.
Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.
Eleonora Gambineri, Sara Ciullini Mannurita, +8 authors, Troy R Torgerson.
Front Immunol, 2018 Nov 18; 9. PMID: 30443250    Free PMC article.
TPP2 mutation associated with sterile brain inflammation mimicking MS.
Eva M Reinthaler, Elisabeth Graf, +25 authors, Alexander Zimprich.
Neurol Genet, 2018 Dec 12; 4(6). PMID: 30533531    Free PMC article.
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.
Thomas Magg, Anna Shcherbina, +23 authors, Daniel Kotlarz.
Inflamm Bowel Dis, 2019 May 23; 25(11). PMID: 31115454    Free PMC article.
Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency.
Ayca Kiykim, Ismail Ogulur, +37 authors, Safa Baris.
J Allergy Clin Immunol Pract, 2019 Jun 27; 7(8). PMID: 31238161    Free PMC article.
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.
Nina K Serwas, Birgit Hoeger, +39 authors, Kaan Boztug.
Nat Commun, 2019 Jul 17; 10(1). PMID: 31308374    Free PMC article.
Chromatin activity at GWAS loci identifies T cell states driving complex immune diseases.
Blagoje Soskic, Eddie Cano-Gamez, +9 authors, Gosia Trynka.
Nat Genet, 2019 Sep 25; 51(10). PMID: 31548716    Free PMC article.
Non-parametric Heat Map Representation of Flow Cytometry Data: Identifying Cellular Changes Associated With Genetic Immunodeficiency Disorders.
Julia I Ellyard, Robert Tunningley, +9 authors, David A Fulcher.
Front Immunol, 2019 Oct 02; 10. PMID: 31572362    Free PMC article.
The Role of Immune Checkpoint Receptors in Regulating Immune Reactivity in Lupus.
Kun-Lin Lu, Ming-Ying Wu, +4 authors, Chun-Bing Chen.
Cells, 2019 Oct 11; 8(10). PMID: 31597242    Free PMC article.
Review.
Mechanisms of immune-related adverse events during the treatment of cancer with immune checkpoint inhibitors.
Sophia C Weinmann, David S Pisetsky.
Rheumatology (Oxford), 2019 Dec 10; 58(Suppl 7). PMID: 31816080    Free PMC article.
Review.
Vitamin D Increases CTLA-4 Gene Expression in Patients with Mild to Moderate Ulcerative Colitis.
Amrollah Sharifi, Homayoon Vahedi, +4 authors, Mohammad Javad Hosseinzadeh-Attar.
Middle East J Dig Dis, 2019 Dec 12; 11(4). PMID: 31824622    Free PMC article.
From Super-Enhancer Non-coding RNA to Immune Checkpoint: Frameworks to Functions.
Manqing Wu, Jun Shen.
Front Oncol, 2019 Dec 12; 9. PMID: 31824865    Free PMC article.
Review.
Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation.
Otavio Cabral-Marques, Lena F Schimke, +6 authors, Antonio Condino-Neto.
Front Immunol, 2019 Dec 19; 10. PMID: 31849949    Free PMC article.
Review.
Time to dissect the autoimmune etiology of cancer antibody immunotherapy.
Michael Dougan, Massimo Pietropaolo.
J Clin Invest, 2020 Jan 03; 130(1). PMID: 31895048    Free PMC article.
Review.
Hijacking antibody-induced CTLA-4 lysosomal degradation for safer and more effective cancer immunotherapy.
Yan Zhang, Xuexiang Du, +9 authors, Yang Liu.
Cell Res, 2019 Jul 04; 29(8). PMID: 31267017    Free PMC article.
Primary immunodeficiencies: novel genes and unusual presentations.
Luigi D Notarangelo, Gulbu Uzel, V Koneti Rao.
Hematology Am Soc Hematol Educ Program, 2019 Dec 07; 2019(1). PMID: 31808899    Free PMC article.
Review.
Cytotoxic T lymphocyte-associated antigen-4 gene polymorphisms and biliary atresia susceptibility in Chinese children.
Jia Liu, Yifan Yang, +6 authors, Shan Zheng.
Int J Clin Exp Pathol, 2018 May 01; 11(5). PMID: 31938405    Free PMC article.
Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age.
Xiaolei Tang, Huimin Li, +4 authors, Shunying Zhao.
Orphanet J Rare Dis, 2020 Jan 24; 15(1). PMID: 31969166    Free PMC article.
Immune Checkpoint Inhibitor Therapy in Patients With Preexisting Inflammatory Bowel Disease.
Hamzah Abu-Sbeih, David M Faleck, +26 authors, Yinghong Wang.
J Clin Oncol, 2019 Dec 05; 38(6). PMID: 31800340    Free PMC article.
Non-infectious Complications of Common Variable Immunodeficiency: Updated Clinical Spectrum, Sequelae, and Insights to Pathogenesis.
Hsi-En Ho, Charlotte Cunningham-Rundles.
Front Immunol, 2020 Mar 03; 11. PMID: 32117289    Free PMC article.
RGMB enhances the suppressive activity of the monomeric secreted form of CTLA-4.
Takashi Sekiya, Satoshi Takaki.
Sci Rep, 2019 May 08; 9(1). PMID: 31061392    Free PMC article.
CTLA-4: a moving target in immunotherapy.
Behzad Rowshanravan, Neil Halliday, David M Sansom.
Blood, 2017 Nov 10; 131(1). PMID: 29118008    Free PMC article.
Highly Cited. Review.
Common variable immune deficiency: Dissection of the variable.
Charlotte Cunningham-Rundles.
Immunol Rev, 2018 Dec 20; 287(1). PMID: 30565247    Free PMC article.
Review.
Neurological Involvement in Childhood Evans Syndrome.
Thomas Pincez, Bénédicte Neven, +19 authors, Nathalie Aladjidi.
J Clin Immunol, 2019 Jan 24; 39(2). PMID: 30671780
CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID.
Pavlina Kralickova, Tomas Milota, +14 authors, Anna Sediva.
Front Immunol, 2019 Feb 07; 9. PMID: 30723478    Free PMC article.
Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.
Matthew B Johnson, Karen Cerosaletti, Sarah E Flanagan, Jane H Buckner.
Curr Diab Rep, 2019 Mar 20; 19(5). PMID: 30888520    Free PMC article.
Review.
Treg cells in autoimmunity: from identification to Treg-based therapies.
Lisa Göschl, Clemens Scheinecker, Michael Bonelli.
Semin Immunopathol, 2019 Apr 07; 41(3). PMID: 30953162
Review.
CTLA-4-mediated transendocytosis of costimulatory molecules primarily targets migratory dendritic cells.
Vitalijs Ovcinnikovs, Ellen M Ross, +9 authors, Lucy S K Walker.
Sci Immunol, 2019 Jun 04; 4(35). PMID: 31152091    Free PMC article.
Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage.
Carole Le Coz, Bertram Bengsch, +16 authors, Neil Romberg.
J Allergy Clin Immunol, 2019 Aug 25; 144(6). PMID: 31445098    Free PMC article.
The Prognostic Landscape of Tumor-Infiltrating Immune Cells and Immune Checkpoints in Glioblastoma.
Shiman Wu, Wenli Yang, +4 authors, Zhenwei Yao.
Technol Cancer Res Treat, 2019 Aug 28; 18. PMID: 31451090    Free PMC article.
Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology.
Andrew J Takeda, Timothy J Maher, +16 authors, Carrie L Lucas.
Nat Commun, 2019 Sep 27; 10(1). PMID: 31554793    Free PMC article.
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1.
Claudia Schröder, Georgios Sogkas, +9 authors, Faranaz Atschekzei.
Front Immunol, 2019 Dec 06; 10. PMID: 31803180    Free PMC article.
Regulatory T Cells in Tumor Microenvironment and Approach for Anticancer Immunotherapy.
Jung-Ho Kim, Beom Seok Kim, Sang-Kyou Lee.
Immune Netw, 2020 Mar 12; 20(1). PMID: 32158592    Free PMC article.
Review.
Peripheral blood immune cell-based biomarkers in anti-PD-1/PD-L1 therapy.
Kyung Hwan Kim, Chang Gon Kim, Eui-Cheol Shin.
Immune Netw, 2020 Mar 12; 20(1). PMID: 32158596    Free PMC article.
Review.
Genetics on early onset inflammatory bowel disease: An update.
Johnson Nameirakpam, Rashmi Rikhi, +2 authors, Deepti Suri.
Genes Dis, 2020 Mar 18; 7(1). PMID: 32181280    Free PMC article.
Review.
The role of FOXP3+ regulatory T cells in human autoimmune and inflammatory diseases.
A Mohr, M Atif, +2 authors, M Miyara.
Clin Exp Immunol, 2019 Mar 05; 197(1). PMID: 30830965    Free PMC article.
Review.
Heterogeneity of Liver Disease in Common Variable Immunodeficiency Disorders.
Antonio Pecoraro, Ludovica Crescenzi, +2 authors, Giuseppe Spadaro.
Front Immunol, 2020 Mar 19; 11. PMID: 32184784    Free PMC article.
Review.
Gastrointestinal and Hepatic Complications of Immunotherapy: Current Management and Future Perspectives.
Michael Dougan.
Curr Gastroenterol Rep, 2020 Mar 19; 22(4). PMID: 32185493
Review.
Disseminated Pneumocystis jirovecii Infection with Osteomyelitis in a Patient with CTLA-4 Haploinsufficiency.
Aminaa E Siddiqi, Anne Y Liu, +8 authors, Yael Gernez.
J Clin Immunol, 2020 Jan 20; 40(2). PMID: 31955317
Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.
Hassan Abolhassani, Yasser M El-Sherbiny, +12 authors, Sinisa Savic.
J Clin Immunol, 2019 Dec 21; 40(2). PMID: 31858365    Free PMC article.
The role of T cell trafficking in CTLA-4 blockade-induced gut immunopathology.
Shashuang Zhang, Wenhua Liang, +2 authors, Feng Wang.
BMC Biol, 2020 Mar 19; 18(1). PMID: 32183814    Free PMC article.
Targeted Therapy with Biologicals and Small Molecules in Primary Immunodeficiencies.
Ottavia Maria Delmonte, Luigi Daniele Notarangelo.
Med Princ Pract, 2019 Oct 10; 29(2). PMID: 31597133    Free PMC article.
Review.
Differentiation of Common Variable Immunodeficiency From IgG Deficiency.
Charles A Filion, Sarah Taylor-Black, +2 authors, Charlotte Cunningham-Rundles.
J Allergy Clin Immunol Pract, 2018 Dec 18; 7(4). PMID: 30557717    Free PMC article.
Recent advances in primary immunodeficiency: from molecular diagnosis to treatment.
Giorgia Bucciol, Isabelle Meyts.
F1000Res, 2020 Apr 01; 9. PMID: 32226610    Free PMC article.
Review.
Development of immune checkpoint therapy for cancer.
Jill M Fritz, Michael J Lenardo.
J Exp Med, 2019 May 10; 216(6). PMID: 31068379    Free PMC article.
Highly Cited. Review.
CTLA4 Message Reflects Pathway Disruption in Monogenic Disorders and Under Therapeutic Blockade.
Josselyn E Garcia-Perez, Ryan M Baxter, +7 authors, Elena W Y Hsieh.
Front Immunol, 2019 Jun 04; 10. PMID: 31156616    Free PMC article.
Preponderance of CTLA4 Variation Associated With Autosomal Dominant Immune Dysregulation in the MYPPPY Motif.
Owen M Siggs, Amanda Russell, +6 authors, Christopher C Goodnow.
Front Immunol, 2019 Aug 10; 10. PMID: 31396201    Free PMC article.
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.
Alina Kurolap, Orly Eshach Adiv, +16 authors, Hagit Baris Feldman.
J Clin Immunol, 2019 May 13; 39(4). PMID: 31079270
Factors Beyond Lack of Antibody Govern Pulmonary Complications in Primary Antibody Deficiency.
Tamar Weinberger, Ramsay Fuleihan, Charlotte Cunningham-Rundles, Paul J Maglione.
J Clin Immunol, 2019 May 16; 39(4). PMID: 31089938    Free PMC article.
Germline Predisposition to Hematolymphoid Neoplasia.
Olga K Weinberg, Frank Kuo, Katherine R Calvo.
Am J Clin Pathol, 2019 Jul 17; 152(3). PMID: 31309983    Free PMC article.
Review.
T cell costimulation, checkpoint inhibitors and anti-tumor therapy.
Dipankar Nandi, Sanmoy Pathak, +6 authors, Vijayamahantesh.
J Biosci, 2020 Apr 30; 45. PMID: 32345776
Review.
Preserving the CTLA-4 Checkpoint for Safer and More Effective Cancer Immunotherapy.
Yang Liu, Pan Zheng.
Trends Pharmacol Sci, 2019 Dec 15; 41(1). PMID: 31836191    Free PMC article.
Review.
Regulatory T-cell therapy in Crohn's disease: challenges and advances.
Jennie N Clough, Omer S Omer, +2 authors, Peter M Irving.
Gut, 2020 Jan 26; 69(5). PMID: 31980447    Free PMC article.
Review.
A guide to cancer immunotherapy: from T cell basic science to clinical practice.
Alex D Waldman, Jill M Fritz, Michael J Lenardo.
Nat Rev Immunol, 2020 May 21; 20(11). PMID: 32433532    Free PMC article.
Review.
Novel Developments in Primary Immunodeficiencies (PID)-a Rheumatological Perspective.
Helen Leavis, Jochen Zwerina, Bernhard Manger, Ruth D E Fritsch-Stork.
Curr Rheumatol Rep, 2019 Sep 06; 21(10). PMID: 31486986
Review.
Normalization Cancer Immunotherapy for Melanoma.
Matthew D Vesely, Lieping Chen.
J Invest Dermatol, 2020 Feb 25; 140(6). PMID: 32092349    Free PMC article.
Efficacy and Toxicity of Immune -Checkpoint Inhibitors in Patients With Preexisting Autoimmune Disorders.
Michelle Coureau, Anne-Pascale Meert, Thierry Berghmans, Bogdan Grigoriu.
Front Med (Lausanne), 2020 May 28; 7. PMID: 32457912    Free PMC article.
Review.
Regulatory genome variants in human susceptibility to infection.
Amalio Telenti, Julia di Iulio.
Hum Genet, 2019 Dec 07; 139(6-7). PMID: 31807864    Free PMC article.
Review.
Incomplete penetrance in primary immunodeficiency: a skeleton in the closet.
Conor Gruber, Dusan Bogunovic.
Hum Genet, 2020 Feb 19; 139(6-7). PMID: 32067110    Free PMC article.
Review.
Aberrant X chromosome skewing and acquired clonal hematopoiesis in adult-onset common variable immunodeficiency.
Gabriel K Wong, Sara Barmettler, +5 authors, Mark Cobbold.
JCI Insight, 2019 Jul 26; 4(14). PMID: 31341110    Free PMC article.
Transcriptional and epigenetic basis of Treg cell development and function: its genetic anomalies or variations in autoimmune diseases.
Naganari Ohkura, Shimon Sakaguchi.
Cell Res, 2020 May 06; 30(6). PMID: 32367041    Free PMC article.
Review.
Multiple Sclerosis: Lipids, Lymphocytes, and Vitamin D.
Colleen E Hayes, James M Ntambi.
Immunometabolism, 2020 Jun 13; 2(3). PMID: 32528735    Free PMC article.
Myeleterosis in an ALPS5 patient with primary immune dysregulation syndrome.
Hongyu Long, Zhao Chen, +2 authors, Hong Jiang.
CNS Neurosci Ther, 2020 Mar 18; 26(7). PMID: 32181586    Free PMC article.
Safety and efficacy of abatacept in patients with treatment-resistant SARCoidosis (ABASARC) - protocol for a multi-center, single-arm phase IIa trial.
Björn C Frye, Ina Caroline Rump, +5 authors, Joachim Müller Quernheim.
Contemp Clin Trials Commun, 2020 Jun 20; 19. PMID: 32551397    Free PMC article.
Single Nucleotide Polymorphisms in PPARD Associated with Systemic Lupus Erythematosus in Chinese Populations.
Yuan-Yuan Qi, Ya-Ling Zhai, +4 authors, Zhan-Zheng Zhao.
J Immunol Res, 2020 Jun 23; 2020. PMID: 32566688    Free PMC article.
From Molecular Mechanisms to Clinical Management of Antineoplastic Drug-Induced Cardiovascular Toxicity: A Translational Overview.
Carlo Gabriele Tocchetti, Christian Cadeddu, +12 authors, Giuseppe Mercuro.
Antioxid Redox Signal, 2017 Apr 12; 30(18). PMID: 28398124    Free PMC article.
Review.
Two neurologic facets of CTLA4-related haploinsufficiency.
Xavier Ayrignac, Radjiv Goulabchand, +13 authors, Philippe Guilpain.
Neurol Neuroimmunol Neuroinflamm, 2020 Jun 06; 7(4). PMID: 32499327    Free PMC article.
Co-stimulatory and co-inhibitory pathways in cancer immunotherapy.
Rachel E O'Neill, Xuefang Cao.
Adv Cancer Res, 2019 Jun 17; 143. PMID: 31202358    Free PMC article.
Review.
Lower T Regulatory and Th17 Cell Populations Predicted by RT-PCR-Amplified FOXP3 and RORγt Genes Are Not Rare in Patients With Primary Immunodeficiency Diseases.
Wen-I Lee, Jing-Long Huang, +7 authors, Chao-Yi Wu.
Front Immunol, 2020 Jul 17; 11. PMID: 32670274    Free PMC article.
Chronic Lung Disease in Primary Antibody Deficiency: Diagnosis and Management.
Paul J Maglione.
Immunol Allergy Clin North Am, 2020 Jul 14; 40(3). PMID: 32654691    Free PMC article.
Review.
Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.
Julia Pazmandi, Artem Kalinichenko, Rico Chandra Ardy, Kaan Boztug.
Immunol Rev, 2018 Dec 20; 287(1). PMID: 30565237    Free PMC article.
Review.
Molecular Pathways of Colon Inflammation Induced by Cancer Immunotherapy.
Adrienne M Luoma, Shengbao Suo, +13 authors, Kai W Wucherpfennig.
Cell, 2020 Jul 01; 182(3). PMID: 32603654    Free PMC article.
Harnessing NK Cell Checkpoint-Modulating Immunotherapies.
Sachin Kumar Singh Chauhan, Ulrike Koehl, Stephan Kloess.
Cancers (Basel), 2020 Jul 10; 12(7). PMID: 32640575    Free PMC article.
Review.
COVID-19 and immunological regulations - from basic and translational aspects to clinical implications.
Michael P Schön, Carola Berking, +13 authors, Kerstin Steinbrink.
J Dtsch Dermatol Ges, 2020 Aug 08; 18(8). PMID: 32761894    Free PMC article.
Review.
Inflammatory Manifestations of Systemic Diseases in the Central Nervous System.
David A Lapides, Mark M McDonald.
Curr Treat Options Neurol, 2020 Aug 25; 22(9). PMID: 32834714    Free PMC article.
Review.
Tissue regulatory T cells.
Prudence PokWai Lui, Inchul Cho, Niwa Ali.
Immunology, 2020 May 29; 161(1). PMID: 32463116    Free PMC article.
Review.

Michael P Schön, Carola Berking, +13 authors, Kerstin Steinbrink.
J Dtsch Dermatol Ges, 2020 Sep 04; 18(8). PMID: 32881300    Free PMC article.
Review.
Recent advance in very early-onset inflammatory bowel disease.
Jung Ok Shim.
Intest Res, 2018 Nov 14; 17(1). PMID: 30419637    Free PMC article.
Recent Advance in Very Early Onset Inflammatory Bowel Disease.
Jung Ok Shim.
Pediatr Gastroenterol Hepatol Nutr, 2019 Jan 24; 22(1). PMID: 30671372    Free PMC article.
Review.
Heart failure in cancer: role of checkpoint inhibitors.
Murilo Delgobo, Stefan Frantz.
J Thorac Dis, 2019 Feb 01; 10(Suppl 35). PMID: 30701100    Free PMC article.
Review.
Treatment-Responsive Granulomatous-Lymphocytic Interstitial Lung Disease in a Pediatric Case of Common Variable Immunodeficiency.
Robert Tillman, R Paul Guillerman, +2 authors, Ivan K Chinn.
Front Pediatr, 2019 Apr 16; 7. PMID: 30984724    Free PMC article.
Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
Salla Keskitalo, Emma M Haapaniemi, +13 authors, Markku Varjosalo.
NPJ Genom Med, 2019 Jul 03; 4. PMID: 31263572    Free PMC article.
Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease.
Beatrice Rivalta, Daniele Zama, +5 authors, Andrea Pession.
Front Pediatr, 2019 Aug 10; 7. PMID: 31396497    Free PMC article.
A Case of Immunotherapy-Induced Colitis Complicated by Perforation and Treated with Infliximab Postoperatively.
Lukas Delasos, Aakash Desai, +2 authors, Carolyn Ray.
Case Rep Oncol Med, 2019 Aug 21; 2019. PMID: 31428491    Free PMC article.
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.
Riccardo Castagnoli, Ottavia Maria Delmonte, Enrica Calzoni, Luigi Daniele Notarangelo.
Front Pediatr, 2019 Aug 24; 7. PMID: 31440487    Free PMC article.
Review.
Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside.
Ottavia Maria Delmonte, Riccardo Castagnoli, Enrica Calzoni, Luigi Daniele Notarangelo.
Front Pediatr, 2019 Sep 12; 7. PMID: 31508401    Free PMC article.
Review.
Characterization of a single chain variable fragment of nivolumab that targets PD-1 and blocks PD-L1 binding.
Jong Shin, Paul J Phelan, +2 authors, Peter A Bullock.
Protein Expr Purif, 2020 Sep 29; 177. PMID: 32987122    Free PMC article.
Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder.
Matthew K Schindler, Stefania Pittaluga, +7 authors, Gulbu Uzel.
J Clin Invest, 2020 Sep 22; 130(10). PMID: 32955488    Free PMC article.
Understanding and Overcoming the Inflammatory Toxicities of Immunotherapy.
Michael Dougan.
Cancer Immunol Res, 2020 Oct 03; 8(10). PMID: 33004412    Free PMC article.
Uncoupling Therapeutic Efficacy from Immune-Related Adverse Events in Immune Checkpoint Blockade.
Weilei Hu, Guosheng Wang, +2 authors, Ming You.
iScience, 2020 Oct 22; 23(10). PMID: 33083746    Free PMC article.
Review.
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Jérôme Hadjadj, Carla Noemi Castro, +40 authors, Frédéric Rieux-Laucat.
Nat Commun, 2020 Oct 23; 11(1). PMID: 33087723    Free PMC article.
Intrahepatic TH17/TReg Cells in Homeostasis and Disease-It's All About the Balance.
Hannah K Drescher, Lea M Bartsch, Sabine Weiskirchen, Ralf Weiskirchen.
Front Pharmacol, 2020 Oct 31; 11. PMID: 33123017    Free PMC article.
Review.
Human inborn errors of immunity: An expanding universe.
Luigi D Notarangelo, Rosa Bacchetta, Jean-Laurent Casanova, Helen C Su.
Sci Immunol, 2020 Jul 12; 5(49). PMID: 32651211    Free PMC article.
Review.
Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease.
Matteo Chinello, Margherita Mauro, +10 authors, Simone Cesaro.
Front Pediatr, 2020 Nov 13; 8. PMID: 33178652    Free PMC article.
Rebooting Human Immunology.
Mark M Davis, Petter Brodin.
Annu Rev Immunol, 2018 Mar 01; 36. PMID: 29490162    Free PMC article.
Highly Cited. Review.
Aplastic Anemia.
Neal S Young.
N Engl J Med, 2018 Oct 26; 379(17). PMID: 30354958    Free PMC article.
Highly Cited. Review.
How Does an Anti-CTLA-4 Antibody Promote Cancer Immunity?
Yang Liu, Pan Zheng.
Trends Immunol, 2018 Dec 01; 39(12). PMID: 30497614    Free PMC article.
Review.
Persistent Activation of Innate Immunity in Patients with Primary Antibody Deficiencies.
Gerasimina Tsinti, Demosthenes Makris, Anastasios E Germenis, Matthaios Speletas.
J Immunol Res, 2020 Dec 05; 2020. PMID: 33274244    Free PMC article.
How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation.
Roshini S Abraham.
Hematology Am Soc Hematol Educ Program, 2020 Dec 05; 2020(1). PMID: 33275711    Free PMC article.
Review.
Targeting co-stimulatory molecules in autoimmune disease.
Natalie M Edner, Gianluca Carlesso, James S Rush, Lucy S K Walker.
Nat Rev Drug Discov, 2020 Sep 18; 19(12). PMID: 32939077
Review.
Histology of Interstitial Lung Disease in Common Variable Immune Deficiency.
Fatima Dhalla, Dylan J Mac Lochlainn, Helen Chapel, Smita Y Patel.
Front Immunol, 2020 Dec 18; 11. PMID: 33329602    Free PMC article.
Review.
Diagnosis and Differential Diagnosis of Neurological Adverse Events during Immune Checkpoint Inhibitor Therapy.
Nora Möhn, Susann Mahjoub, +7 authors, Thomas Skripuletz.
J Oncol, 2021 Jan 01; 2020. PMID: 33381178    Free PMC article.
Genomic profiling of T-cell activation suggests increased sensitivity of memory T cells to CD28 costimulation.
Dafni A Glinos, Blagoje Soskic, +4 authors, Gosia Trynka.
Genes Immun, 2020 Nov 24; 21(6-8). PMID: 33223527    Free PMC article.
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
Carmen Oleaga-Quintas, Edgar Borges de Oliveira-Júnior, +57 authors, Jacinta Bustamante.
J Clin Immunol, 2021 Jan 09; 41(3). PMID: 33417088    Free PMC article.
B Cells in Patients With Melanoma: Implications for Treatment With Checkpoint Inhibitor Antibodies.
Zena N Willsmore, Robert J Harris, +21 authors, Sophia N Karagiannis.
Front Immunol, 2021 Feb 12; 11. PMID: 33569063    Free PMC article.
Review.
An AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance.
Elise M N Ferré, Michail S Lionakis.
Front Immunol, 2021 Feb 16; 11. PMID: 33584685    Free PMC article.
Review.
Monogenic Immune Diseases Provide Insights Into the Mechanisms and Treatment of Chronic Graft-Versus-Host Disease.
Jacob Rozmus.
Front Immunol, 2021 Feb 23; 11. PMID: 33613511    Free PMC article.
Review.
Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.
Emily S J Edwards, Julian J Bosco, +2 authors, Menno C van Zelm.
Cell Mol Immunol, 2020 Aug 18; 18(3). PMID: 32801365    Free PMC article.
Review.
PD-L1 and B7-1 Cis-Interaction: New Mechanisms in Immune Checkpoints and Immunotherapies.
Christopher D Nishimura, Marc C Pulanco, +2 authors, Xingxing Zang.
Trends Mol Med, 2020 Nov 18; 27(3). PMID: 33199209    Free PMC article.
Review.
COVID-19, varying genetic resistance to viral disease and immune tolerance checkpoints.
Christopher C Goodnow.
Immunol Cell Biol, 2020 Oct 29; 99(2). PMID: 33113212    Free PMC article.
Review.
Immune checkpoint inhibitor-associated myocarditis: manifestations and mechanisms.
Javid Moslehi, Andrew H Lichtman, +2 authors, Richard N Kitsis.
J Clin Invest, 2021 Mar 02; 131(5). PMID: 33645548    Free PMC article.
Review.
Primary Immune Regulatory Disorders and Targeted Therapies
Burcu Kolukısa, Safa Barış.
Turk J Haematol, 2021 Jan 15; 38(1). PMID: 33442967    Free PMC article.
Review.
Autoimmune complications of cancer immunotherapy.
Kavita M Dhodapkar.
Curr Opin Immunol, 2019 Sep 27; 61. PMID: 31557690    Free PMC article.
Review.
Thymic origins of autoimmunity-lessons from inborn errors of immunity.
Rosa Bacchetta, Kenneth Weinberg.
Semin Immunopathol, 2021 Feb 04; 43(1). PMID: 33532929    Free PMC article.
Review.
Understanding and treating the inflammatory adverse events of cancer immunotherapy.
Michael Dougan, Adrienne M Luoma, Stephanie K Dougan, Kai W Wucherpfennig.
Cell, 2021 Mar 07; 184(6). PMID: 33675691    Free PMC article.
Review.
Inborn errors of immunity-recent advances in research on the pathogenesis.
Motoi Yamashita, Kento Inoue, Tsubasa Okano, Tomohiro Morio.
Inflamm Regen, 2021 Mar 27; 41(1). PMID: 33766139    Free PMC article.
Review.
Novel human immunomodulatory T cell receptors and their double-edged potential in autoimmunity, cardiovascular disease and cancer.
Pilar Martín, Rafael Blanco-Domínguez, Raquel Sánchez-Díaz.
Cell Mol Immunol, 2020 Nov 26; 18(4). PMID: 33235388    Free PMC article.
Review.
Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity.
Georgios Sogkas, Faranaz Atschekzei, +3 authors, Reinhold Ernst Schmidt.
Cell Mol Immunol, 2021 Apr 03; 18(5). PMID: 33795850    Free PMC article.
Review.
Advanced Nanotechnology for Enhancing Immune Checkpoint Blockade Therapy.
Chiara Cremolini, Emanuela Vitale, Raffaella Rastaldo, Claudia Giachino.
Nanomaterials (Basel), 2021 Apr 04; 11(3). PMID: 33800368    Free PMC article.
Review.
A Genetic Mouse Model Recapitulates Immune Checkpoint Inhibitor-Associated Myocarditis and Supports a Mechanism-Based Therapeutic Intervention.
Spencer C Wei, Wouter C Meijers, +24 authors, James P Allison.
Cancer Discov, 2020 Dec 02; 11(3). PMID: 33257470    Free PMC article.
Surgical management of unilateral oophorectomy for ovarian tissue cryopreservation in high-risk children and adolescents with varied backgrounds.
Seido Takae, Shigeyuki Furuta, +19 authors, Nao Suzuki.
Pediatr Surg Int, 2021 Apr 16; 37(8). PMID: 33855613
Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants.
Eriko Totsune, Tomohiro Nakano, +11 authors, Shigeo Kure.
Front Immunol, 2021 Apr 30; 12. PMID: 33912197    Free PMC article.
Immune Checkpoints, a Novel Class of Therapeutic Targets for Autoimmune Diseases.
Yujia Zhai, Reza Moosavi, Mingnan Chen.
Front Immunol, 2021 May 11; 12. PMID: 33968036    Free PMC article.
Review.
Different Apples, Same Tree: Visualizing Current Biological and Clinical Insights into CTLA-4 Insufficiency and LRBA and DEF6 Deficiencies.
Laura Gámez-Díaz, Markus G Seidel.
Front Pediatr, 2021 May 18; 9. PMID: 33996698    Free PMC article.
Review.
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Jahnavi Aluri, Alicia Bach, +33 authors, Megan A Cooper.
Blood, 2021 Jan 30; 137(18). PMID: 33512449    Free PMC article.
A rare case of autoimmune polyglandular syndrome with Sjögren's syndrome and primary hypoparathyroidism.
Katsumi Iizuka, Masami Mizuno, Kenta Nonomura, Daisuke Yabe.
BMJ Case Rep, 2019 May 28; 12(5). PMID: 31133546    Free PMC article.
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
Peter Lehmkuhl, Magdalena Gentz, +3 authors, Alla Skapenko.
Cell Mol Immunol, 2021 Jun 02; 18(7). PMID: 34059789    Free PMC article.
The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay.
C Kelaidi, V Tzotzola, S Polychronopoulou.
Fam Cancer, 2021 Jun 16; 20(4). PMID: 34128135
Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review.
M Jamee, S Hosseinzadeh, +7 authors, G Azizi.
Clin Exp Immunol, 2021 Apr 01; 205(1). PMID: 33788257    Free PMC article.
Systematic Review.
Association of the genetic polymorphisms in inhibiting and activating molecules of immune system with rheumatoid arthritis: A systematic review and meta-analysis.
Mohammad Javad Mousavi, Mohammad Reza Hooshangi Shayesteh, +4 authors, Nima Rezaei.
J Res Med Sci, 2021 Jul 06; 26. PMID: 34221051    Free PMC article.
Review.
Autoimmunity as an Etiological Factor of Cancer: The Transformative Potential of Chronic Type 2 Inflammation.
Chris M Li, Zhibin Chen.
Front Cell Dev Biol, 2021 Jul 09; 9. PMID: 34235145    Free PMC article.
Review.
The Use of Biologic Modifiers as a Bridge to Hematopoietic Cell Transplantation in Primary Immune Regulatory Disorders.
Danielle E Arnold, Deepak Chellapandian, Jennifer W Leiding.
Front Immunol, 2021 Jul 13; 12. PMID: 34248986    Free PMC article.
Review.
Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency.
Lu Yang, Xiuhong Xue, +7 authors, Xiaodong Zhao.
Genes Dis, 2020 Mar 12; 8(5). PMID: 34291137    Free PMC article.
A Family with a Novel CTLA4 Haploinsufficiency Mutation and Neurological Symptoms.
Alexandros Grammatikos, Sarah Johnston, Claire M Rice, Mark Gompels.
J Clin Immunol, 2021 May 07; 41(6). PMID: 33956248    Free PMC article.
Treg-expressed CTLA-4 depletes CD80/CD86 by trogocytosis, releasing free PD-L1 on antigen-presenting cells.
Murat Tekguc, James Badger Wing, +2 authors, Shimon Sakaguchi.
Proc Natl Acad Sci U S A, 2021 Jul 25; 118(30). PMID: 34301886    Free PMC article.
Regulation of CTLA-4 recycling by LRBA and Rab11.
Daniel Janman, Claudia Hinze, +8 authors, David M Sansom.
Immunology, 2021 May 08; 164(1). PMID: 33960403    Free PMC article.
Intestinal Regulatory T Cells as Specialized Tissue-Restricted Immune Cells in Intestinal Immune Homeostasis and Disease.
Justin Jacobse, Jing Li, +2 authors, Jeremy A Goettel.
Front Immunol, 2021 Aug 24; 12. PMID: 34421921    Free PMC article.
Review.
A local regulatory T cell feedback circuit maintains immune homeostasis by pruning self-activated T cells.
Harikesh S Wong, Kyemyung Park, +10 authors, Ronald N Germain.
Cell, 2021 Jun 23; 184(15). PMID: 34157301    Free PMC article.
Advancing to the era of cancer immunotherapy.
Yun Wang, Min Wang, Hao-Xiang Wu, Rui-Hua Xu.
Cancer Commun (Lond), 2021 Jun 25; 41(9). PMID: 34165252    Free PMC article.
Review.
Development of preclinical and clinical models for immune-related adverse events following checkpoint immunotherapy: a perspective from SITC and AACR.
Nicholas L Bayless, Jeffrey A Bluestone, +8 authors, Theresa L Walunas.
J Immunother Cancer, 2021 Sep 05; 9(9). PMID: 34479924    Free PMC article.
Review.
Spectrum of Disease Manifestations in Patients with Selective Immunoglobulin E Deficiency.
César Picado, Iñaki Ortiz de Landazuri, +11 authors, Mariona Pascal.
J Clin Med, 2021 Sep 29; 10(18). PMID: 34575269    Free PMC article.
Chronically Activated T-cells Retain Their Inflammatory Properties in Common Variable Immunodeficiency.
Roos-Marijn Berbers, M Marlot van der Wal, +5 authors, Femke van Wijk.
J Clin Immunol, 2021 Jul 12; 41(7). PMID: 34247288    Free PMC article.
Multinational Association of Supportive Care in Cancer (MASCC) 2020 clinical practice recommendations for the management of severe gastrointestinal and hepatic toxicities from checkpoint inhibitors.
Michael Dougan, Ada G Blidner, +10 authors, Bernardo L Rapoport.
Support Care Cancer, 2020 Aug 29; 28(12). PMID: 32856210    Free PMC article.
Review.
The genetic landscape of the FAS pathway deficiencies.
Aude Magerus, Clara Bercher-Brayer, Frédéric Rieux-Laucat.
Biomed J, 2021 Jun 26; 44(4). PMID: 34171534    Free PMC article.
Review.
Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes.
Laura Gámez-Díaz, Bodo Grimbacher.
Biomed J, 2021 Aug 14; 44(4). PMID: 34384744    Free PMC article.
Review.
Cutting Edge: A Threshold of B Cell Costimulatory Signals Is Required for Spontaneous Germinal Center Formation in Autoimmunity.
Kristy Chiang, Andrea D Largent, +9 authors, Shaun W Jackson.
J Immunol, 2021 Oct 01; 207(9). PMID: 34588220    Free PMC article.
Drug Repurposing for Rare Diseases: A Role for Academia.
Sibren van den Berg, Saco de Visser, Hubert G M Leufkens, Carla E M Hollak.
Front Pharmacol, 2021 Nov 09; 12. PMID: 34744726    Free PMC article.
Biological Bases of Immune-Related Adverse Events and Potential Crosslinks With Immunogenic Effects of Radiation.
Lilia Bardoscia, Nadia Pasinetti, +2 authors, Angela Sardaro.
Front Pharmacol, 2021 Nov 19; 12. PMID: 34790123    Free PMC article.
Review.
Monogenic Adult-Onset Inborn Errors of Immunity.
Frederik Staels, Tom Collignon, +6 authors, Rik Schrijvers.
Front Immunol, 2021 Dec 07; 12. PMID: 34867986    Free PMC article.
Review.
Endocrinopathies in Inborn Errors of Immunity.
Kei Takasawa, Hirokazu Kanegane, Kenichi Kashimada, Tomohiro Morio.
Front Immunol, 2021 Dec 11; 12. PMID: 34887872    Free PMC article.
Review.
Immune Checkpoints and Innate Lymphoid Cells-New Avenues for Cancer Immunotherapy.
Nicolas Jacquelot, Maryam Ghaedi, +3 authors, Pamela S Ohashi.
Cancers (Basel), 2021 Dec 11; 13(23). PMID: 34885076    Free PMC article.
Review.
Renal Toxicity.
Maen Abdelrahim, Ala Abudayyeh.
Adv Exp Med Biol, 2022 Jan 02; 1342. PMID: 34972976
Review.
Hypoplastic myelodysplastic syndrome and acquired aplastic anemia: Immune‑mediated bone marrow failure syndromes (Review).
Hana Votavova, Monika Belickova.
Int J Oncol, 2021 Dec 28; 60(1). PMID: 34958107    Free PMC article.
Review.
Mechanisms of immune checkpoint inhibitor-mediated liver injury.
Layla Shojaie, Myra Ali, Andrea Iorga, Lily Dara.
Acta Pharm Sin B, 2022 Jan 14; 11(12). PMID: 35024302    Free PMC article.
Review.
Retrospective analysis of the preparation and application of immunotherapy in cancer treatment (Review).
Jiachen Lu, Jianing Ding, Zhaoxia Liu, Tingtao Chen.
Int J Oncol, 2022 Jan 05; 60(2). PMID: 34981814    Free PMC article.
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.
Akihiro Hoshino, Etsushi Toyofuku, +25 authors, Hirokazu Kanegane.
Front Immunol, 2022 Jan 29; 12. PMID: 35087518    Free PMC article.
Systematic Review.
Inborn Errors of Immunity and Their Phenocopies: CTLA4 and PD-1.
Yuwei Hao, Matthew C Cook.
Front Immunol, 2022 Feb 15; 12. PMID: 35154081    Free PMC article.
Review.
A case of autoimmune enteropathy with CTLA4 haploinsufficiency.
Haruka Miyazaki, Namiko Hoshi, +15 authors, Yuzo Kodama.
Intest Res, 2021 Jan 22; 20(1). PMID: 33476510    Free PMC article.
Fc-independent functions of anti-CTLA-4 antibodies contribute to anti-tumor efficacy.
Yosuke Sato, Cierra N Casson, +14 authors, Michael H Shaw.
Cancer Immunol Immunother, 2022 Mar 04;. PMID: 35237846
T-follicular helper cell expansion and chronic T-cell activation are characteristic immune anomalies in Evans syndrome.
Deepak Kumar, Chengyu Prince, +18 authors, Shanmuganathan Chandrakasan.
Blood, 2021 Aug 24; 139(3). PMID: 34424963    Free PMC article.
Primary immune regulatory disorders: Undiagnosed needles in the haystack?
Aisling M Flinn, Andrew R Gennery.
Orphanet J Rare Dis, 2022 Mar 05; 17(1). PMID: 35241125    Free PMC article.
Review.
The link between circulating follicular helper T cells and autoimmunity.
Lucy S K Walker.
Nat Rev Immunol, 2022 Mar 13;. PMID: 35277664    Free PMC article.
Review.
Potential Utility of Induced Translocation of Engineered Bacteria as a Therapeutic Agent for Mounting a Personalized Neoantigen-Based Tumor Immune Response.
Ginés Luengo-Gil, Pablo Conesa-Zamora.
Glob Chall, 2022 Mar 15; 6(3). PMID: 35284089    Free PMC article.
New Insights and Advances in Pathogenesis and Treatment of Very Early Onset Inflammatory Bowel Disease.
Qi-Qi Li, Hui-Hong Zhang, Shi-Xue Dai.
Front Pediatr, 2022 Mar 19; 10. PMID: 35299671    Free PMC article.
Review.
Everolimus-Induced Remission of Classic Kaposi's Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency.
Jin Yan Yap, Brian Gloss, +20 authors, Tri Giang Phan.
J Clin Immunol, 2020 Jun 21; 40(5). PMID: 32562209    Free PMC article.
Tipping the balance: inhibitory checkpoints in intestinal homeostasis.
Maria E Joosse, Iris Nederlof, Lucy S K Walker, Janneke N Samsom.
Mucosal Immunol, 2018 Dec 01; 12(1). PMID: 30498201
Review.
Imaging evaluation of the pediatric mediastinum: new International Thymic Malignancy Interest Group classification system for children.
Nhi H Vo, Kumar K Shashi, +2 authors, Edward Y Lee.
Pediatr Radiol, 2022 Apr 28;. PMID: 35476071
Review.
Defective hematopoietic differentiation of immune aplastic anemia patient-derived iPSCs.
Maria Florencia Tellechea, Flávia S Donaires, +8 authors, Rodrigo T Calado.
Cell Death Dis, 2022 Apr 29; 13(4). PMID: 35484113    Free PMC article.
A sporadic case of CTLA4 haploinsufficiency manifesting as Epstein-Barr virus-positive diffuse large B-cell lymphoma.
Hepei Yuan, Momoko Nishikori, +8 authors, Akifumi Takaori-Kondo.
J Clin Exp Hematop, 2021 Oct 29; 62(1). PMID: 34707038    Free PMC article.
Parathyroid Hormone Resistance and Autoantibodies to the PTH1 Receptor.
Adel Mandl, Peter D Burbelo, +14 authors, Lee S Weinstein.
N Engl J Med, 2021 Nov 18; 385(21). PMID: 34788508    Free PMC article.
Autoimmunity in Primary Immunodeficiencies (PID).
Grace T Padron, Vivian P Hernandez-Trujillo.
Clin Rev Allergy Immunol, 2022 Jun 02;. PMID: 35648371
Review.