Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report

IntroductionX-linked lymphoproliferative disease type 1 (XLP1) is an inborn error of immunity (IEI) caused by pathogenic variants in the SH2D1A gene, leading to severe immune dysregulation, often triggered by Epstein-Barr virus (EBV) infection. Hemophagocytic lymphohistiocytosis (HLH) is one of the...

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Bibliographic Details
Main Authors: Oksana Boyarchuk, Alla Volokha, Nataliia Yarema, Olga Dyvoniak, Tetyana Tomashivska, Ivanna Shymanska, Halyna Makukh, Jolan E. Walter
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Immunology
Subjects:
XLP1
hemophagocytic lymphohistiocytosis
SH2D1A gene
Epstein-Barr virus
SARS-CoV-2
HLH
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1602107/full
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