Browsing by Autor "Danielian, Silvia"

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    [Wiskott-Aldrich syndrome. A report of a new mutation].
    (2014) Guillén-Rocha, Nelva; López-Rocha, Eunice; Danielian, Silvia; Segura-Méndez, Nora; López-González, Lucina; Lugo-Reyes, Saúl Oswaldo
    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.