title: [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.affiliation: Alergia e Inmunología Clínica, Cochabamba, Bolivia. dr.lugo.reyes@gmail.com.
authors.forename: Nelva
authors.initials: N
authors.lastname: Guillén-Rocha
authors.forename: Eunice
authors.initials: E
authors.lastname: López-Rocha
authors.forename: Silvia
authors.initials: S
authors.lastname: Danielian
authors.forename: Nora
authors.initials: N
authors.lastname: Segura-Méndez
authors.forename: Lucina
authors.initials: L
authors.lastname: López-González
authors.forename: Saúl Oswaldo
authors.initials: SO
authors.lastname: Lugo-Reyes
keywords: Persistent thrombocytopenia; Primary immunodeficiency; Wiskott-Aldrich syndrome