Wiskott–Aldrich syndrome: Two case reports with a novel mutation

ABSTRACT

Background: The Wiskott–Aldrich syndrome (WAS) is X-linked recessive disorder associated with microplatelet thrombocytopenia, eczema, infections, and an increased risk of autoimmunity and lymphoid neoplasia. The originally described features of WAS include susceptibility to infections, microthrombocytopenia, and eczema.

Aim: In this case report, we present our experience about two cases diagnosed with a new mutation.

Methods: We report phenotypical and laboratory description of two cases with WAS.

Results: We, for the first time, detected a new hemizygote mutation of WAS gene (NM_000377.2 p.M393lfs^*102 (c.1178dupT)) in two patients. The first case was an 11-month-old boy presenting with complaints of recurrent soft tissue infection, ear infection, anemia, and thrombocytopenia with a low platelet volume. The second case was a 2-month-old boy presenting with thrombocytopenia and a low platelet volume. Both cases were the first-degree relatives: they were cousins and their mothers were sisters.

Conclusion: Herein, we report two cases of WAS and a new gene mutation which would disrupt the WAS protein function within the Polyproline (PPP) domain. This report adds to the growing number of mutations which cause complex clinical manifestations associated with WAS.

KEYWORDS:

• Genetic mutation
• immune deficiency
• Wiskott–Aldrich syndrome