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

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 synd...

Source: BMC Medical Genetics - June 5, 2020 Category: Genetics & Stem Cells Authors: Brigitte Glanzmann, Marlo M öller, Mardelle Schoeman, Michael Urban, Paul D. van Helden, Lisa Frigati, Ravnit Grewal, Hermanus Pieters, Ben Loos, Eileen G. Hoal, Richard H. Glashoff, Helena Cornelissen, Helena Rabie, Monika M. Esser and Craig J. Kinnear Tags: Case report Source Type: research