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 
  • PMID: 25213377
  •     28 References
  •     318 citations


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.

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Naoka Murakami, Shveta Motwani, Leonardo V Riella.
Curr Probl Cancer, 2017 Feb 13; 41(2). PMID: 28189263    Free PMC article.
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.
Genetics of primary sclerosing cholangitis and pathophysiological implications.
Xiaojun Jiang, Tom H Karlsen.
Nat Rev Gastroenterol Hepatol, 2017 Mar 16; 14(5). PMID: 28293027
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.
Studying human immunodeficiencies in humans: advances in fundamental concepts and therapeutic interventions.
Helen Su.
F1000Res, 2017 Apr 15; 6. PMID: 28408979    Free PMC article.
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.
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.
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.
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.
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.
Autoimmune enteropathies.
Sarah E Umetsu, Ian Brown, Cord Langner, Gregory Y Lauwers.
Virchows Arch, 2017 Oct 13; 472(1). PMID: 29022145
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.
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
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.
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.
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.
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
Nuclear Factor-kappaB in Autoimmunity: Man and Mouse.
Bahar Miraghazadeh, Matthew C Cook.
Front Immunol, 2018 Apr 25; 9. PMID: 29686669    Free PMC article.
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
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.
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
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.
Regulatory Role of CD4+ T Cells in Myocarditis.
Daria Vdovenko, Urs Eriksson.
J Immunol Res, 2018 Jul 24; 2018. PMID: 30035131    Free PMC article.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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
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.
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.
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.
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.
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.
Gastrointestinal and Hepatic Complications of Immunotherapy: Current Management and Future Perspectives.
Michael Dougan.
Curr Gastroenterol Rep, 2020 Mar 19; 22(4). PMID: 32185493
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.
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.
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.
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Am J Clin Pathol, 2019 Jul 17; 152(3). PMID: 31309983    Free PMC article.
T cell costimulation, checkpoint inhibitors and anti-tumor therapy.
Dipankar Nandi, Sanmoy Pathak, +6 authors, Vijayamahantesh.
J Biosci, 2020 Apr 30; 45. PMID: 32345776
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.
Regulatory T-cell therapy in Crohn's disease: challenges and advances.
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A guide to cancer immunotherapy: from T cell basic science to clinical practice.
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Nat Rev Immunol, 2020 May 21; 20(11). PMID: 32433532    Free PMC article.
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
Normalization Cancer Immunotherapy for Melanoma.
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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.
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Front Med (Lausanne), 2020 May 28; 7. PMID: 32457912    Free PMC article.
Regulatory genome variants in human susceptibility to infection.
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Hum Genet, 2019 Dec 07; 139(6-7). PMID: 31807864    Free PMC article.
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JCI Insight, 2019 Jul 26; 4(14). PMID: 31341110    Free PMC article.
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Cell Res, 2020 May 06; 30(6). PMID: 32367041    Free PMC article.
Multiple Sclerosis: Lipids, Lymphocytes, and Vitamin D.
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Immunometabolism, 2020 Jun 13; 2(3). PMID: 32528735    Free PMC article.
Myeleterosis in an ALPS5 patient with primary immune dysregulation syndrome.
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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.
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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.
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Antioxid Redox Signal, 2017 Apr 12; 30(18). PMID: 28398124    Free PMC article.
Two neurologic facets of CTLA4-related haploinsufficiency.
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Neurol Neuroimmunol Neuroinflamm, 2020 Jun 06; 7(4). PMID: 32499327    Free PMC article.
Co-stimulatory and co-inhibitory pathways in cancer immunotherapy.
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Adv Cancer Res, 2019 Jun 17; 143. PMID: 31202358    Free PMC article.
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.
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Immunol Allergy Clin North Am, 2020 Jul 14; 40(3). PMID: 32654691    Free PMC article.
Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.
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Immunol Rev, 2018 Dec 20; 287(1). PMID: 30565237    Free PMC article.
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.
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.
Inflammatory Manifestations of Systemic Diseases in the Central Nervous System.
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Curr Treat Options Neurol, 2020 Aug 25; 22(9). PMID: 32834714    Free PMC article.
Tissue regulatory T cells.
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Immunology, 2020 May 29; 161(1). PMID: 32463116    Free PMC article.

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J Dtsch Dermatol Ges, 2020 Sep 04; 18(8). PMID: 32881300    Free PMC article.
Recent advance in very early-onset inflammatory bowel disease.
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Intest Res, 2018 Nov 14; 17(1). PMID: 30419637    Free PMC article.
Recent Advance in Very Early Onset Inflammatory Bowel Disease.
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Pediatr Gastroenterol Hepatol Nutr, 2019 Jan 24; 22(1). PMID: 30671372    Free PMC article.
Heart failure in cancer: role of checkpoint inhibitors.
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J Thorac Dis, 2019 Feb 01; 10(Suppl 35). PMID: 30701100    Free PMC article.
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.
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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.
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.
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.
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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.
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iScience, 2020 Oct 22; 23(10). PMID: 33083746    Free PMC article.
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
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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.
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Front Pharmacol, 2020 Oct 31; 11. PMID: 33123017    Free PMC article.
Human inborn errors of immunity: An expanding universe.
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Sci Immunol, 2020 Jul 12; 5(49). PMID: 32651211    Free PMC article.
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.
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Front Pediatr, 2020 Nov 13; 8. PMID: 33178652    Free PMC article.
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How Does an Anti-CTLA-4 Antibody Promote Cancer Immunity?
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Persistent Activation of Innate Immunity in Patients with Primary Antibody Deficiencies.
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Nat Rev Drug Discov, 2020 Sep 18; 19(12). PMID: 32939077
Histology of Interstitial Lung Disease in Common Variable Immune Deficiency.
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Front Immunol, 2020 Dec 18; 11. PMID: 33329602    Free PMC article.
Diagnosis and Differential Diagnosis of Neurological Adverse Events during Immune Checkpoint Inhibitor Therapy.
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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.
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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.
An AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance.
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Front Immunol, 2021 Feb 16; 11. PMID: 33584685    Free PMC article.
Monogenic Immune Diseases Provide Insights Into the Mechanisms and Treatment of Chronic Graft-Versus-Host Disease.
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Front Immunol, 2021 Feb 23; 11. PMID: 33613511    Free PMC article.
Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.
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Cell Mol Immunol, 2020 Aug 18; 18(3). PMID: 32801365    Free PMC article.
PD-L1 and B7-1 Cis-Interaction: New Mechanisms in Immune Checkpoints and Immunotherapies.
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Trends Mol Med, 2020 Nov 18; 27(3). PMID: 33199209    Free PMC article.
COVID-19, varying genetic resistance to viral disease and immune tolerance checkpoints.
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Immunol Cell Biol, 2020 Oct 29; 99(2). PMID: 33113212    Free PMC article.
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.
Primary Immune Regulatory Disorders and Targeted Therapies
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Autoimmune complications of cancer immunotherapy.
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Thymic origins of autoimmunity-lessons from inborn errors of immunity.
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Understanding and treating the inflammatory adverse events of cancer immunotherapy.
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Cell, 2021 Mar 07; 184(6). PMID: 33675691    Free PMC article.
Inborn errors of immunity-recent advances in research on the pathogenesis.
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Inflamm Regen, 2021 Mar 27; 41(1). PMID: 33766139    Free PMC article.
Novel human immunomodulatory T cell receptors and their double-edged potential in autoimmunity, cardiovascular disease and cancer.
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Cell Mol Immunol, 2020 Nov 26; 18(4). PMID: 33235388    Free PMC article.
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.
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.
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.
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Front Immunol, 2021 May 11; 12. PMID: 33968036    Free PMC article.
Different Apples, Same Tree: Visualizing Current Biological and Clinical Insights into CTLA-4 Insufficiency and LRBA and DEF6 Deficiencies.
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Front Pediatr, 2021 May 18; 9. PMID: 33996698    Free PMC article.
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.
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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.
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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.
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Fam Cancer, 2021 Jun 16; 20(4). PMID: 34128135
Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review.
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Association of the genetic polymorphisms in inhibiting and activating molecules of immune system with rheumatoid arthritis: A systematic review and meta-analysis.
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J Res Med Sci, 2021 Jul 06; 26. PMID: 34221051    Free PMC article.
Autoimmunity as an Etiological Factor of Cancer: The Transformative Potential of Chronic Type 2 Inflammation.
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Front Cell Dev Biol, 2021 Jul 09; 9. PMID: 34235145    Free PMC article.
The Use of Biologic Modifiers as a Bridge to Hematopoietic Cell Transplantation in Primary Immune Regulatory Disorders.
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Front Immunol, 2021 Jul 13; 12. PMID: 34248986    Free PMC article.
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.
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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.
A local regulatory T cell feedback circuit maintains immune homeostasis by pruning self-activated T cells.
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Cell, 2021 Jun 23; 184(15). PMID: 34157301    Free PMC article.
Advancing to the era of cancer immunotherapy.
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Cancer Commun (Lond), 2021 Jun 25; 41(9). PMID: 34165252    Free PMC article.
Development of preclinical and clinical models for immune-related adverse events following checkpoint immunotherapy: a perspective from SITC and AACR.
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J Immunother Cancer, 2021 Sep 05; 9(9). PMID: 34479924    Free PMC article.
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.
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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.
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Support Care Cancer, 2020 Aug 29; 28(12). PMID: 32856210    Free PMC article.
The genetic landscape of the FAS pathway deficiencies.
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Biomed J, 2021 Jun 26; 44(4). PMID: 34171534    Free PMC article.
Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes.
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Biomed J, 2021 Aug 14; 44(4). PMID: 34384744    Free PMC article.
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.
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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.
Monogenic Adult-Onset Inborn Errors of Immunity.
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Front Immunol, 2021 Dec 07; 12. PMID: 34867986    Free PMC article.
Endocrinopathies in Inborn Errors of Immunity.
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Front Immunol, 2021 Dec 11; 12. PMID: 34887872    Free PMC article.
Immune Checkpoints and Innate Lymphoid Cells-New Avenues for Cancer Immunotherapy.
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Cancers (Basel), 2021 Dec 11; 13(23). PMID: 34885076    Free PMC article.
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Adv Exp Med Biol, 2022 Jan 02; 1342. PMID: 34972976
Hypoplastic myelodysplastic syndrome and acquired aplastic anemia: Immune‑mediated bone marrow failure syndromes (Review).
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Int J Oncol, 2021 Dec 28; 60(1). PMID: 34958107    Free PMC article.
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.
Retrospective analysis of the preparation and application of immunotherapy in cancer treatment (Review).
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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.
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Fc-independent functions of anti-CTLA-4 antibodies contribute to anti-tumor efficacy.
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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.
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Potential Utility of Induced Translocation of Engineered Bacteria as a Therapeutic Agent for Mounting a Personalized Neoantigen-Based Tumor Immune Response.
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New Insights and Advances in Pathogenesis and Treatment of Very Early Onset Inflammatory Bowel Disease.
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