{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:55:53Z","timestamp":1790650553012,"version":"4.1.0"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2017,7,21]],"date-time":"2017-07-21T00:00:00Z","timestamp":1500595200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,9,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Immune deficiency disorders are a heterogeneous group of diseases of variable genetic aetiology. While the hallmark of immunodeficiency is susceptibility to infection, it is increasingly clear that autoimmunity is prevalent, suggestive of a more general immune dysregulation in some cases. With the increasing use of genetic technologies, the underlying causes of immune dysregulation are beginning to emerge. Here we provide a review of the heterozygous mutations found in the immune checkpoint protein CTLA-4, identified in cases of common variable immunodeficiency disorders (CVID) with accompanying autoimmunity. Study of these mutations provides insights into the biology of CTLA-4 as well as suggesting approaches for rational treatment of these patients.<\/jats:p>","DOI":"10.1111\/cei.12997","type":"journal-article","created":{"date-parts":[[2017,6,10]],"date-time":"2017-06-10T10:02:42Z","timestamp":1497088962000},"page":"1-7","source":"Crossref","is-referenced-by-count":131,"title":["Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations"],"prefix":"10.1093","volume":"190","author":[{"given":"N","family":"Verma","sequence":"first","affiliation":[{"name":"Clinical Immunology Department, Royal Free Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S O","family":"Burns","sequence":"additional","affiliation":[{"name":"Clinical Immunology Department, Royal Free Hospital, London, UK"},{"name":"Division of Infection and Immunity, School of Life and Medical Sciences, Institute of Immunity and Transplantation, University College London, Royal Free Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L S K","family":"Walker","sequence":"additional","affiliation":[{"name":"Division of Infection and Immunity, School of Life and Medical Sciences, Institute of Immunity and Transplantation, University College London, Royal Free Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6506-3115","authenticated-orcid":false,"given":"D M","family":"Sansom","sequence":"additional","affiliation":[{"name":"Division of Infection and Immunity, School of Life and Medical Sciences, Institute of Immunity and Transplantation, University College London, Royal Free Hospital, London, 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