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Article

Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report.

BMC medical genetics - 12 Apr 2018

Lyu Xiaodong, Guo Zhen, Li Yangwei, Fan Ruihua, Song Yongping

Abstract excerpt

BACKGROUND: X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH). Causative mutations for XLP1 have been identified in SH2D1A, located on chromosome Xq25. CASE PRESENTATION: We report a case of an 18-month-old male with a novel nonsense mutation in SH2D1A. The patient presented the typical phenotype of...

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Identifiers

PMID: 29649976
DOI: 10.1186/s12881-018-0576-y
PMCID: PMC5897942

Genes

PRF1
STX11
STXBP2
XIAP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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