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Rev Alerg Mex. 2014 Jul-Sep;61(3):219-23.

[Wiskott-Aldrich syndrome. A report of a new mutation].

[Article in Spanish; Abstract available in Spanish from the publisher]

Author information

1
Alergia e Inmunología Clínica, Cochabamba, Bolivia. dr.lugo.reyes@gmail.com.

Abstract

in English, Spanish

Wiskott-Aldrich syndrome was first reported clinically in 1937, and in 1954 the classic triad was identified: eccema, recurrent infections and thrombocytopenia with an X-linked transmission. Its incidence is estimated at 1 to 10 in one million live births per year. Wiskott Aldrich syndrome is caused by mutations in a gene in the short arm of chromosome X that encodes the Wiskott-Aldrich syndrome protein (WASp), which identification and sequencing was first performed in 1994, and since then about 300 mutations have been reported. This paper describes the case of a boy with Wiskott-Aldrich syndrome, with clinical and genetic diagnosis, with a considerable diagnostic delay attributable to an atypical presentation misdiagnosed as immune thrombocytopenia.

KEYWORDS:

Persistent thrombocytopenia; Primary immunodeficiency; Wiskott-Aldrich syndrome

PMID:
25177856

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