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Evolution of Our Understanding of XIAP Deficiency

Mudde, ACA; Booth, C; Marsh, RA; (2021) Evolution of Our Understanding of XIAP Deficiency. Frontiers in Pediatrics , 9 , Article 660520. 10.3389/fped.2021.660520. Green open access

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X-linked inhibitor of apoptosis (XIAP) deficiency is a rare inborn error of immunity first described in 2006. XIAP deficiency is characterised by immune dysregulation and a broad spectrum of clinical manifestations, including haemophagocytic lymphohistiocytosis (HLH), inflammatory bowel disease (IBD), hypogammaglobulinemia, susceptibility to infections, splenomegaly, cytopaenias, and other less common autoinflammatory phenomena. Since the first description of the disease, many XIAP deficient patients have been identified and our understanding of the disease has grown. Over 90 disease causing mutations have been described and more inflammatory disease manifestations, such as hepatitis, arthritis, and uveitis, are now well-recognised. Recently, following the introduction of reduced intensity conditioning (RIC), outcomes of allogeneic haematopoietic stem cell transplantation (HSCT), the only curative treatment option for XIAP deficiency, have improved. The pathophysiology of XIAP deficiency is not fully understood, however it is known that XIAP plays a role in both the innate and adaptive immune response and in immune regulation, most notably through modulation of tumour necrosis factor (TNF)-receptor signalling and regulation of NLRP3 inflammasome activity. In this review we will provide an up to date overview of both the clinical aspects and pathophysiology of XIAP deficiency.

Type: Article
Title: Evolution of Our Understanding of XIAP Deficiency
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/fped.2021.660520
Publisher version: http://dx.doi.org/10.3389/fped.2021.660520
Language: English
Additional information: Copyright © 2021 Mudde, Booth and Marsh. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Keywords: XIAP deficiency, X-linked lymphoproliferative disease, haemophagocytic lymphohistiocytosis, inflammatory bowel disease, inflammasome, haematopoietic stem cell transplantation, NOD2, BIRC4, X-LINKED INHIBITOR, NF-KAPPA-B, INFLAMMATORY-BOWEL-DISEASE, STEM-CELL TRANSPLANTATION, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, CROHNS-DISEASE, LYMPHOPROLIFERATIVE DISEASE, PRIMARY IMMUNODEFICIENCY, APOPTOSIS PROTEINS, IMMUNE-RESPONSES
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 Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10136019
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