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Article

Exon skipping caused by a complex structural variation in SH2D1A resulted in X-linked lymphoproliferative syndrome type 1.

Molecular genetics & genomic medicine - 1 Mar 2022

Wu Liwen, Yang Feng, Wang Jia, Yang Fan, Liang Mengmeng, Yang Haiyan

Abstract excerpt

BACKGROUND: X-linked lymphoproliferative syndrome type 1 (XLP1) is a rare primary immunodeficiency disorder characterized by severe immune dysregulation often after viral infection. It is caused by hemizygous mutations in the X-linked SH2D1A gene. People with XLP1 have complex and variable phenotype manifestations as EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (EBV-HLH),...

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Identifiers

PMID: 35092357
DOI: 10.1002/mgg3.1873
PMCID: PMC8922962

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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