[威斯科特-奥尔德里奇综合征：病例报告]

[Wiskott-Aldrich syndrome: Case report].

作者信息

Pacheco-Rosas Daniel, Pomerantz Alan, Blachman-Braun Ruben

机构信息

Servicio de Infectología Pediátrica, Centro Médico Nacional Siglo XXI, Distrito Federal, México.

Médico Interno de Pregrado, Facultad de Ciencias de la Salud, Universidad Anáhuac México Norte, México, México.

出版信息

Arch Argent Pediatr. 2015 Jun;113(3):e137-9. doi: 10.5546/aap.2015.e137.

DOI:10.5546/aap.2015.e137

PMID:25996331

Abstract

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.

摘要

威斯科特-奥尔德里奇综合征是一种罕见的X连锁隐性免疫缺陷病，估计每百万男性中的发病率为3.5至5.2例。其特征为免疫缺陷、小血小板减少症和湿疹。我们报告一名5岁的西班牙裔男性，有多次感染性疾病、健康受损、慢性营养不良、语言发育迟缓及生长发育不良的病史。发现了威斯科特-奥尔德里奇综合征基因中的一种罕见突变。