Síndrome de Wiskott-Aldrich. Caso clínico | Zendy

Daniel Octavio Pacheco-Rosas | Zendy; Alan Pomerantz | Zendy; Ruben BlachmanBraun | Zendy

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Síndrome de Wiskott-Aldrich. Caso clínico

Author(s) -

Daniel Octavio Pacheco-Rosas,

Alan Pomerantz,

Ruben BlachmanBraun

Publication year - 2015

Publication title -

archivos argentinos de pediatria

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.

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