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Article

Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.

PloS one - 1 Jan 2017

Zhang Jun-Yu, Chen Song-Chang, Chen Yi-Yao, Li Shu-Yuan, Zhang Lan-Lan, Shen Ying-Hua, Chang Chun-Xin, Xiang Yu-Qian, Huang He-Feng, Xu Chen-Ming

Abstract excerpt

X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic...

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PMID: 28231257
DOI: 10.1371/journal.pone.0172173
PMCID: PMC5322879

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

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