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Órgano Oficial del Colegio Mexicano de Alergia, Asma e Inmunología Pediátrica y de la Asociación Latinoamericana de Pediatría

2014, Number 2

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Alerg Asma Inmunol Pediatr 2014; 23 (2)

WASp expression by flow cytometry for the diagnosis of Wiskott-Aldrich: an easy and quick method currently available in Mexico

Cano-De la Vega RA, Gómez-Tello H, Espinosa-Padilla SE, González-Serrano ME

Language: Spanish
References: 11
Page: 57-63
PDF size: 376.35 Kb.


ABSTRACT

The Wiskott-Aldrich syndrome (WAS) is a fairly complex X-linked primary immunodeficiency. Due to mutation in the gene encoding the WAS protein (WASp), which is expressed in hematopoietic cells, is involved in the formation of the cytoskeleton cells and thus in cell mobility, cell-cell interaction, immune regulation, cell signaling and cytotoxicity. WAS classic consists of the triad: thrombocytopenia with small platelets, recurrent infections and eczema. The treatment is based on a program of adequate nutrition, antimicrobial therapies and replacement gammaglobulin; prognosis of transplantation, only known cure, improves if it is performed early in life preferably in the first months, making early diagnosis very crucial. The diagnosis can be very difficult due to atypical clinical phenotypes and the inability to perform mutation analysis of the gene at all probable cases. Therefore WASp expression by flow cytometry is an easy, quick and applicable test to detect the disease; it is currently available in Immunodeficiency Research Unit of the National Institute of Pediatrics.


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