Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant

Abstract

Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder caused by abnormal expression of the Wiskott-Aldrich syndrome protein due to WAS gene mutation, usually characterized by microthrombocytopenia, eczema, hematological malignancies, recurrent infections, and a high risk of autoimmune complications. In this report, we present a family presenting with severe intrauterine cranial hemorrhage. The family has novel c.1377_1378dup (p.Pro460Hisfs*12) variant of WAS gene. The severe and early onset clinic in the family seems to be related to location of the variant on VCA domain of the WAS protein.

Keywords: Intraventricular hemorrhage; Thrombocytopenia; Wiskott-Aldrich syndrome.