Open AccessSíndrome de Wiskott-Aldrich. Caso clínico
Author(s) -
Daniel Octavio Pacheco-Rosas,
Alan Pomerantz,
Rubén Blachman-Braun
Publication year - 2015
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2015.e137
Subject(s) - wiskott–aldrich syndrome , wiskott–aldrich syndrome protein , failure to thrive , immunodeficiency , primary immunodeficiency , incidence (geometry) , malnutrition , medicine , autosomal recessive inheritance , dermatology , pediatrics , immunology , gene , genetics , biology , immune system , actin cytoskeleton , physics , cytoskeleton , cell , optics
The Wiskott-Aldrich syndrome is a rare X-linked recessive immunodeficiency, with an estimated incidence of 3.5 to 5.2 cases per million males. It is characterized by immunodeficiency, microthrombocytopenia and eczema. We present a 5-year-old Hispanic male, with a medical history of numerous infectious diseases, compromised health, chronic malnutrition, language delay and failure to thrive. An infrequent mutation in the Wiskott-Aldrich syndrome gene was found.