Article
Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.
BMC medical genetics - 5 Jun 2020
Glanzmann Brigitte, Möller Marlo, Schoeman Mardelle, Urban Michael, van Helden Paul D, Frigati Lisa, Grewal Ravnit, Pieters Hermanus, Loos Ben, Hoal Eileen G, Glashoff Richard H, Cornelissen Helena, Rabie Helena, Esser Monika M, Kinnear Craig J
Abstract excerpt
BACKGROUND: The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The syndrome, the result of mutations in the WAS gene which encodes the Wiskott-Aldrich protein (WASp), has wide clinical phenotype variation, ranging from classical WAS to X-linked thrombocytopaenia and...
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