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

¹ Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.
² Laboratory of Cell Biology, Division of Monoclonal Antibodies, Office of Biotechnology Products, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Bethesda, MD 20892, USA.
³ Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.
⁴ Immunology and Immunodeficiency Group, Immunology Division, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
⁵ Department of Immunobiology, Yale University School of Medicine, New Haven, CT 06511, USA.
⁶ Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA.
⁷ NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.
⁸ Hematology Branch, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA.
⁹ Radiology and Imaging and Sciences, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.
¹⁰ Clinical Research Directorate, Clinical Monitoring Research Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
¹¹ Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA.
¹² Department of Pediatrics, University of Wisconsin, Madison, WI 53706, USA.
¹³ Laboratory of Pathology, National Cancer Institute, Bethesda, MD 20892, USA.
¹⁴ Division of Immunology and Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Boston, MA 10217, USA.
¹⁵ Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.
¹⁶ Merck Research Laboratories, Merck & Co., Boston, MA 02130, USA.
¹⁷ Instituto de Medicina Integral Prof. Fernando Figueira-IMIP, 50070 Recife-PE, Brazil.

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.

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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. less 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. less Front Immunol, 2018 Jan 30; 8. PMID: 29375547 Free PMC article.
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Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing. Shintaro Ono, Manabu Nakayama, +18 authors, Tomohiro Morio. less Int J Hematol, 2018 May 20; 108(3). PMID: 29777376
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"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.
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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. less Endocr Rev, 2018 Sep 06; 40(1). PMID: 30184160 Free PMC article. Review.
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Immune Checkpoints as Therapeutic Targets in Autoimmunity. Christopher Paluch, Ana Mafalda Santos, +2 authors, Simon J Davis. less Front Immunol, 2018 Oct 24; 9. PMID: 30349540 Free PMC article. Review.
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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. less Front Immunol, 2018 Nov 18; 9. PMID: 30443250 Free PMC article.
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The Role of Immune Checkpoint Receptors in Regulating Immune Reactivity in Lupus. Kun-Lin Lu, Ming-Ying Wu, +4 authors, Chun-Bing Chen. less Cells, 2019 Oct 11; 8(10). PMID: 31597242 Free PMC article. Review.
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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. less 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.
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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.
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Heterogeneity of Liver Disease in Common Variable Immunodeficiency Disorders. Antonio Pecoraro, Ludovica Crescenzi, +2 authors, Gilda Varricchi, Giancarlo Marone, Giuseppe Spadaro. less Front Immunol, 2020 Mar 19; 11. PMID: 32184784 Free PMC article. Review.
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Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency. Hassan Abolhassani, Yasser M El-Sherbiny, +12 authors, Sinisa Savic. less J Clin Immunol, 2019 Dec 21; 40(2). PMID: 31858365 Free PMC article.
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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.
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Spectrum of Disease Manifestations in Patients with Selective Immunoglobulin E Deficiency. César Picado, Iñaki Ortiz de Landazuri, +11 authors, Mariona Pascal. less 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. less J Clin Immunol, 2021 Jul 12; 41(7). PMID: 34247288 Free PMC article.
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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. less 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, Luca Triggiani, Salvatore Cozzi, Angela Sardaro. less Front Pharmacol, 2021 Nov 19; 12. PMID: 34790123 Free PMC article. Review.
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Immune Checkpoints and Innate Lymphoid Cells-New Avenues for Cancer Immunotherapy. Nicolas Jacquelot, Maryam Ghaedi, +3 authors, Pamela S Ohashi. less Cancers (Basel), 2021 Dec 11; 13(23). PMID: 34885076 Free PMC article. Review.
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