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

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...

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Bibliographic Details
Main Authors: Brigitte Glanzmann, Marlo Möller, 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, Craig J. Kinnear
Format: Article
Language:English
Published: BMC 2020-06-01
Series:BMC Medical Genetics
Subjects:
Wiskott-Aldrich syndrome
Exome sequencing
Primary immunodeficiency diseases
Online Access:http://link.springer.com/article/10.1186/s12881-020-01054-6

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http://link.springer.com/article/10.1186/s12881-020-01054-6

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