Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report

• Main Authors: Brigitte Glanzmann (Author), Marlo Möller (Author), Mardelle Schoeman (Author), Michael Urban (Author), Paul D. van Helden (Author), Lisa Frigati (Author), Ravnit Grewal (Author), Hermanus Pieters (Author), Ben Loos (Author), Eileen G. Hoal (Author), Richard H. Glashoff (Author), Helena Cornelissen (Author), Helena Rabie (Author), Monika M. Esser (Author), Craig J. Kinnear (Author)
• Format: Book
• Published: BMC, 2020-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...