title: [Wiskott-Aldrich Syndrome: An updated review].
abstract: The Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency and is inherited in an X-linked pattern. Affected patients have mutations in the gene encoding Wiskott-Aldrich syndrome protein (WASP), a key regulator of signaling and reorganization of the cytoskeleton in hematopoietic cells. Mutations in WASP gene lead to a wide clinical spectrum ranging from thrombocytopenia, immunodeficiency, eczema and high susceptibility to tumor development and manifestations such as skin infections, suppurative otitis and pneumonia. Clinical symptoms start around the age of 6 months. Incidence of this disease is 1-10/millions of births. The laboratory tests show low platelet count and small size, but definitive diagnosis can only be confirmed by the demonstration of mutations in WASP gene. Treatment of WAS is based on antimicrobial therapy, prophylactic use of intravenous gamma globulin and bone marrow transplantation. Life expectancy in treated individuals is around 20 years but without treatment is 3.5 years.
authors.affiliation: Insurgentes sur 3700-C, Cuicuilco, CP 04530, MÈxico, D.F. Lbg73_2000@yahoo.com.
authors.forename: Lizbeth
authors.initials: L
authors.lastname: Blancas-Galicia
authors.forename: Cecilia
authors.initials: C
authors.lastname: Escamilla-Quiroz
authors.forename: Marco Antonio
authors.initials: MA
authors.lastname: Yamazaki-Nakashimada
mesh_terms: D006801:Humans; D007153:Immunologic Deficiency Syndromes; D009154:Mutation; D013921:Thrombocytopenia; D014923:Wiskott-Aldrich Syndrome; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D051316:Wiskott-Aldrich Syndrome Protein