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

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-Aldrich protein (WASp), has wide clinical phenotype variation, ranging from classical WAS to X-linked thrombocytopaenia and X-linked neutropaenia. In many cases, the diagnosis of WAS in first affected males is delayed, because patients may not present with the classic signs and symptoms, which may intersect with other thrombocytopenia causes.

Case presentation

Here, we describe a three-year-old HIV negative boy presenting with recurrent infections, skin rashes, features of autoimmunity an

SUBMITTER: Glanzmann B 

PROVIDER: S-EPMC7275612 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature