X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective
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 causa...
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doaj-b601a82a1971482c9cd8629b301432fc2020-11-24T20:44:04ZengFrontiers Media S.A.Frontiers in Immunology1664-32242018-04-01910.3389/fimmu.2018.00666332400X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular PerspectiveNeelam Panchal0Claire Booth1Claire Booth2Jennifer L. Cannons3Jennifer L. Cannons4Pamela L. Schwartzberg5Pamela L. Schwartzberg6Molecular and Cellular Immunology Section, Great Ormond Street Institute of Child Health, University College London, London, United KingdomMolecular and Cellular Immunology Section, Great Ormond Street Institute of Child Health, University College London, London, United KingdomDepartment of Pediatric Immunology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United KingdomNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United StatesNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United StatesNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United StatesNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United StatesX-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.http://journal.frontiersin.org/article/10.3389/fimmu.2018.00666/fullX-linked lymphoproliferative disease 1Epstein–Barr virusSAP (signaling lymphocyte activation molecule-associated protein)signaling lymphocytic activation moleculeprimary immunodeficiency diseasehemophagocytic lymphohistiocytosis |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Neelam Panchal Claire Booth Claire Booth Jennifer L. Cannons Jennifer L. Cannons Pamela L. Schwartzberg Pamela L. Schwartzberg |
spellingShingle |
Neelam Panchal Claire Booth Claire Booth Jennifer L. Cannons Jennifer L. Cannons Pamela L. Schwartzberg Pamela L. Schwartzberg X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective Frontiers in 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 |
author_facet |
Neelam Panchal Claire Booth Claire Booth Jennifer L. Cannons Jennifer L. Cannons Pamela L. Schwartzberg Pamela L. Schwartzberg |
author_sort |
Neelam Panchal |
title |
X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective |
title_short |
X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective |
title_full |
X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective |
title_fullStr |
X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective |
title_full_unstemmed |
X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective |
title_sort |
x-linked lymphoproliferative disease type 1: a clinical and molecular perspective |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Immunology |
issn |
1664-3224 |
publishDate |
2018-04-01 |
description |
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. |
topic |
X-linked lymphoproliferative disease 1 Epstein–Barr virus SAP (signaling lymphocyte activation molecule-associated protein) signaling lymphocytic activation molecule primary immunodeficiency disease hemophagocytic lymphohistiocytosis |
url |
http://journal.frontiersin.org/article/10.3389/fimmu.2018.00666/full |
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