Expresión de WASp por citometría de flujo para el diagnóstico de Wiskott-Aldrich: un método sencillo y rápido actualmente disponible en México

The Wiskott-Aldrich syndrome (WAS) is a fairly complex X-linked primary immunodefi ciency. 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 fi rst months, making early diagnosis very crucial. The diagnosis can be very diffi cult due to atypical clinical phenotypes and the inability to perform mutation analysis of the gene at all probable cases. Therefore WASp expression by fl ow cytometry is an easy, quick and applicable test to detect the disease; it is currently available in Immunodefi ciency Research Unit of the National Institute of Pediatrics.