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.
| Type: | Article |
|---|---|
| Title: | Immune deficiency and autoimmunity in patients with CTLA-4 mutations |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/cei.12997 |
| Publisher version: | http://doi.org/10.1111/cei.12997 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Autoimmunity, Costimulation, Immunodeficiency Diseases, Regulatory T Cells, T Cells |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Infection and Immunity |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1559715 |
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