Open AccessAnalysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Author(s) -
Doina Turcan,
Lucia Andries,
Alexandr Dorif,
Victoria Sacara
Publication year - 2021
Publication title -
one health and risk management
Language(s) - English
Resource type - Journals
eISSN - 2587-3466
pISSN - 2587-3458
DOI - 10.38045/ohrm.2021.3.10
Subject(s) - congenital neutropenia , wiskott–aldrich syndrome , neutropenia , medicine , asymptomatic , rash , pediatrics , wiskott–aldrich syndrome protein , dermatology , gene , genetics , biology , actin cytoskeleton , toxicity , cytoskeleton , cell
. Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene which encodes the WAS protein (WASp) – a key regulator of actin polymerization in hematopoietic cells. Mutations within the WASp gene result in a wide heterogeneity of clinical disease, ranging from ‘classical WAS’ to mild asymptomatic thrombocytopenia (X-linked thrombocytopenia [XLT]), or congenital neutropenia (X-lined neutropenia [XLN]).Case presentation. This present paper reports a phenotypical and laboratory description of two children diagnosed with WAS and one child diagnosed with XLT. The first case was a six months old male with septicemia, thrombocytopenia, eczema and petechial rash. The second case was a 2 years old boy presenting with complaints of recurrent infections, eczema and thrombocytopenia with small platelet size. The third case was a 16 years old boy who presented with thrombocytopenia and recurrent sinopulmonary infections.Conclusions. Due to a wide spectrum of clinical ndings, the diagnosis of WAS/XLT should be considered in any male patient presenting with petechiae, bruises, and congenital or early-onset thrombocytopenia associated with small platelet size.