1. Instituto Nacional de Pediatría
2. INP
3. Tesis

Título :	Detection of inheritance pattern in thirty three mexican males with chronic granulomatous disease through 123 dihidrorodamine assay
Creador:	Cano García, Viridiana
Nivel de acceso:	Open access
Palabras clave :	Enfermedad granulomatosa crónica - Prevencion y control
Descripción :	BACKGROUND There are two inheritance patterns, the X-linked recessive (XL) pattern and the autosomal recessive pattern. There is no information on the predominant inheritance pattern of male patients with chronic granulomatous disease (CGD) in Mexico. OBJETIVE The aim of this study was to determine the inheritance pattern in a cohort of Mexican male patients with CGD by means of the detection of an XL status carrier among their female relatives, and to describe the frequency of discoid lupus (DL) among carriers. METHODS We detected the female relatives within the families of male patients with CGD, and carried out the 123-dihydrorhodamine (DHR) assay for all female participants. All carriers were questioned for current or past established DL diagnosis. RESUL TS We detected 33 families with one or more CGD male patients; we found an XLCGD in 79% of the kindred from at least one female relative with a bimodal pattern. For the remaining seven kindred we were not able to confirm a carrier status by means of a DHR assay. Moreover, we detected one mother with CGD secondary to skewed X-chromosome inactivation. We also found 47 carriers, and only one carrier with DL among them. CONCLUS/ON We concluded that XL-CGD is the most frequent form of CGD in a cohort of CGD male patients in Mexico. DHR assay is a fast and practica! tool to determine the CGD form in the Latín-American countries. Finally, DL frequency in Mexico is lower than that reported in the literature for other regions of the world.
Colaborador(es) u otros Autores:	Blancas Galicia Lizbeth
Fecha de publicación :	2014
Tipo de publicación:	Otros
Formato:	pdf
URI :	http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/310
Aparece en las colecciones:	Tesis

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