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Article

Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.

Orphanet journal of rare diseases - 22 Dec 2022

Ji Xin, Hou Xuening, Guo Xin, Sun Yifeng, Ma Futian, Hao Jihong

Abstract excerpt

BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder caused by abnormal expression of the WAS protein (WASp) due to mutations in the WAS gene, and is generally characterized by microthrombocytopenia, eczema, recurrent infections, and high susceptibility to autoimmune complications and hematological malignancies. RESULTS: Herein, we identified a novel WAS mutation (c.158 T > C)...

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Identifiers

PMID: 36550574
DOI: 10.1186/s13023-022-02589-y
PMCID: PMC9783790

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