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

Abstract

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.

• Authors: Nelva Guillén-Rocha, Eunice López-Rocha, Silvia Danielian, Nora Segura-Méndez, Lucina López-González, Saúl Oswaldo Lugo-Reyes
• Journal: Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) (Rev Alerg Mex) 2014 Jul-Sep Vol. 61 Issue 3 Pg. 219-23 ISSN: 0002-5151 [Print] Mexico
• Vernacular Title: Síndrome de Wiskott-Aldrich. Comunicación de una nueva mutación.
• PMID: 25177856 (Publication Type: English Abstract, Journal Article)