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Archivos argentinos de pediatría
versão impressa ISSN 0325-0075
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PACHECO-ROSAS, Daniel; POMERANTZ, Alan e BLACHMAN-BRAUN, Ruben. Wiskott-Aldrich syndrome: Case report. Arch. argent. pediatr. [online]. 2015, vol.113, n.3, pp.e137-e139. ISSN 0325-0075. http://dx.doi.org/10.5546/aap.2015.e137.
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 characterizedby 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.
Palavras-chave : Wiskott-Aldrich syndrome; Immunologic deficiency syndromes; Sepsis.