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Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome
The Malaysian Journal of Pathology ; : 153-158, 2015.
Artículo en Inglés | WPRIM | ID: wpr-630575
ABSTRACT
The Wiskott-Aldrich Syndrome (WAS) is an X-linked immunodeficiency condition characterized by microthrombocytopenia, eczema and recurrent infections. It is caused by mutations in the Wiskott-Aldrich Syndrome protein (WASP) gene. We investigated two Malay boys who presented with congenital thrombocytopenia, eczema and recurrent infections. Here we report two cases of WASP mutation in Malaysia from two unrelated families. One had a novel missense mutation in exon 1 while the other had a nonsense mutation in exon 2. Both patients succumbed to diseaserelated complications. A differential diagnosis of WAS should be considered in any male child who present with early onset thrombocytopenia, especially when this is associated with eczema and recurrent infections.

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Idioma: Inglés Revista: The Malaysian Journal of Pathology Año: 2015 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Idioma: Inglés Revista: The Malaysian Journal of Pathology Año: 2015 Tipo del documento: Artículo