Detection of inheritance pattern in thirty-three Mexican males with chronic granulomatous disease through 123 dihydrorhodamine assay.
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 world.
['Berrón-Ruiz|L|L|', 'Morín-Contreras|A|A|', 'Cano-García|V|V|', 'Yamazaki-Nakashimada|M A|MA|', 'Gómez-Tello|H|H|', 'Vargas-Camaño|M E|ME|', 'Canseco-Raymundo|R|R|', 'Saracho-Weber|F|F|', 'Pietropaolo-Cienfuegos|D|D|', 'Del Río-Navarro|B|B|', 'Staines-Boone|T|T|', 'Espinosa-Rosales|F|F|', 'González-Del Ángel|A|A|', 'Saenz-de-Ocaris|M M|MM|', 'Pacheco-Rosas|D|D|', 'Espinosa-Padilla|S|S|', 'Santos-Argumedo|L|L|', 'Blancas-Galicia|L|L|']
D002469:Cell Separation D041321:Chromosomes, Human, X D015331:Cohort Studies D005260:Female D005434:Flow Cytometry D005820:Genetic Testing D006105:Granulomatous Disease, Chronic D006579:Heterozygote D006801:Humans D040582:Inheritance Patterns D008179:Lupus Erythematosus, Discoid D008297:Male D008800:Mexico D010375:Pedigree D012235:Rhodamines
Chronic granulomatous disease 123 dihydrorhodamine Discoid lupus Chronic granulomatous disease carriers