Wiskott-Aldrich syndrome. Case report

被引：0

作者：

Pacheco-Rosas, Daniel ^{[1
]}

Pomerantz, Alan ^{[2
]}

Blachman-Braun, Ruben ^{[2
]}

机构：

[1] Ctr Med Nacl Siglo XXI, Serv Infectol Pediat, Mexico City, DF, Mexico

[2] Univ Anahuac Mexico Norte, Fac Ciencias Salud, Med Interno Pregrado, Mexico City, DF, Mexico

来源：

ARCHIVOS ARGENTINOS DE PEDIATRIA | 2015年 / 113卷 / 03期

关键词：

Wiskott-Aldrich syndrome; immunologic deficiency syndromes; sepsis; WASP; GENE; MUTATIONS;

D O I：

10.5546/aap.2015.e137

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：E137 / E139

页数：3

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