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X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective

Panchal, N; Booth, C; Cannons, JL; Schwartzberg, PL; (2018) X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective. Frontiers in Immunology , 9 , Article 666. 10.3389/fimmu.2018.00666. Green open access

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Abstract

X-linked lymphoproliferative disease (XLP) was first described in the 1970s as a fatal lymphoproliferative syndrome associated with infection with Epstein–Barr virus (EBV). Features include hemophagocytic lymphohistiocytosis (HLH), lymphomas, and dysgammaglobulinemias. Molecular cloning of the causative gene, SH2D1A, has provided insight into the nature of disease, as well as helped characterize multiple features of normal immune cell function. Although XLP type 1 (XLP1) provides an example of a primary immunodeficiency in which patients have problems clearing primarily one infectious agent, it is clear that XLP1 is also a disease of severe immune dysregulation, even independent of EBV infection. Here, we describe clinical features of XLP1, how molecular and biological studies of the gene product, SAP, and the associated signaling lymphocyte activation molecule family receptors have provided insight into disease pathogenesis including specific immune cell defects, and current therapeutic approaches including the potential use of gene therapy. Together, these studies have helped change the outcome of this once almost uniformly fatal disease.

Type: Article
Title: X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/fimmu.2018.00666
Publisher version: http://doi.org/10.3389/fimmu.2018.00666
Language: English
Additional information: Copyright © 2018 Panchal, Booth, Cannons and Schwartzberg. This is an openaccess 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 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: Science & Technology, Life Sciences & Biomedicine, Immunology, X-linked lymphoproliferative disease 1, Epstein-Barr virus, SAP (signaling lymphocyte activation molecule-associated protein), signaling lymphocytic activation molecule, primary immunodeficiency disease, hemophagocytic lymphohistiocytosis, hematopoietic stem cell transfer, gene therapy, BARR-VIRUS INFECTION, NATURAL-KILLER-CELLS, PROTEIN-TYROSINE-PHOSPHATASE, SLAM FAMILY RECEPTORS, SYNDROME GENE-PRODUCT, HUMORAL IMMUNITY, PRIMARY IMMUNODEFICIENCY, T-CELLS, B-CELLS, LYMPHOCYTIC VASCULITIS
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/10047009
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