Verma, N; Burns, SO; Walker, LS; Sansom, DM; (2017) Immune deficiency and autoimmunity in patients with CTLA-4 mutations. Clinical & Experimental Immunology , 190 (1) pp. 1-7. 10.1111/cei.12997.

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Abstract

Immune deficiency disorders are a heterogeneous group of diseases of variable genetic aetiology. Whilst 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, which was originally 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. This article is protected by copyright. All rights reserved.

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