Detection of inheritance pattern in thirty-three Mexican males with chronic granulomatous disease through 123 dihydrorhodamine assay
Allergol. immunopatol
; 42(6): 580-585, nov.-dic. 2014.
Artigo
em Inglês
| IBECS
| ID: ibc-130149
Biblioteca responsável:
ES1.1
Localização: BNCS
ABSTRACT
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.OBJECTIVE:
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 in all female participants. All carriers were questioned for current or past established DL diagnosis.RESULTS:
We detected 33 families with one or more CGD male patients; we found an XL-CGD in 79% of the relatives from at least one female relative with a bimodal pattern. For the remaining seven relatives 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.CONCLUSION:
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 practical tool to determine the CGD form in the Latin-American countries. Finally, DL frequency in Mexico is lower than that reported in the literature for other regions of the worldRESUMEN
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Coleções:
Bases de dados nacionais
/
Espanha
Base de dados:
IBECS
Assunto principal:
Lúpus Eritematoso Discoide
/
Doença Granulomatosa Crônica
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
País/Região como assunto:
México
Idioma:
Inglês
Revista:
Allergol. immunopatol
Ano de publicação:
2014
Tipo de documento:
Artigo
Instituição/País de afiliação:
CINVESTAV-IPN/Mexico
/
Centro Médico Nacional 20 de Noviembre/Mexico
/
Hospital Infantil de México/Mexico
/
Hospital Infantil del Estado de Chihuahua/Mexico
/
Hospital de Especialidades CMN la Raza/Mexico
/
Hospital de Pediatria/Argentina
/
Hospital del Niño Poblano/Mexico
/
IMSS/Mexico
/
Instituto Nacional de Pediatría/Mexico
/
Instituto Nacional de pediatría/Mexico