title: Detection of inheritance pattern in thirty-three Mexican males with chronic granulomatous disease through 123 dihydrorhodamine assay.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Unidad de investigación en inmunodeficiencias, Instituto Nacional de Pediatría, Mexico.
authors.forename: L
authors.initials: L
authors.lastname: Berrón-Ruiz
authors.affiliation: Unidad de investigación en inmunodeficiencias, Instituto Nacional de Pediatría, Mexico.
authors.forename: A
authors.initials: A
authors.lastname: Morín-Contreras
authors.affiliation: Unidad de investigación en inmunodeficiencias, Instituto Nacional de Pediatría, Mexico.
authors.forename: V
authors.initials: V
authors.lastname: Cano-García
authors.affiliation: Servicio de Inmunología, Instituto Nacional de Pediatría, Mexico.
authors.forename: M A
authors.initials: MA
authors.lastname: Yamazaki-Nakashimada
authors.affiliation: Servicio de Alergia, Hospital del Niño Poblano, Mexico.
authors.forename: H
authors.initials: H
authors.lastname: Gómez-Tello
authors.affiliation: Servicio de Inmunología y Alergia, Centro Médico Nacional 20 de Noviembre, Mexico.
authors.forename: M E
authors.initials: ME
authors.lastname: Vargas-Camaño
authors.affiliation: Departamento Clínico de Alergia e Inmunología, Hospital de Especialidades CMN la Raza, Mexico.
authors.forename: R
authors.initials: R
authors.lastname: Canseco-Raymundo
authors.affiliation: Jefatura de Enseñanza, Hospital infantil del Estado de Chihuahua, Mexico.
authors.forename: F
authors.initials: F
authors.lastname: Saracho-Weber
authors.affiliation: Servicio de Alergia, Hospital Infantil de México, Mexico.
authors.forename: D
authors.initials: D
authors.lastname: Pietropaolo-Cienfuegos
authors.affiliation: Servicio de Alergia, Hospital Infantil de México, Mexico.
authors.forename: B
authors.initials: B
authors.lastname: Del Río-Navarro
authors.affiliation: Servicio de Inmunología, Unidad médica de alta especialidad # 25 IMSS, Mexico.
authors.forename: T
authors.initials: T
authors.lastname: Staines-Boone
authors.affiliation: Unidad de investigación en inmunodeficiencias, Instituto Nacional de Pediatría, Mexico.
authors.forename: F
authors.initials: F
authors.lastname: Espinosa-Rosales
authors.affiliation: Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Mexico.
authors.forename: A
authors.initials: A
authors.lastname: González-Del Ángel
authors.affiliation: Servicio de Dermatología, Instituto Nacional de Pediatría, Mexico.
authors.forename: M M
authors.initials: MM
authors.lastname: Saenz-de-Ocaris
authors.affiliation: Servicio de Infectología, Hospital de Pediatría, CMN siglo XXI, Argentina.
authors.forename: D
authors.initials: D
authors.lastname: Pacheco-Rosas
authors.affiliation: Unidad de investigación en inmunodeficiencias, Instituto Nacional de Pediatría, Mexico.
authors.forename: S
authors.initials: S
authors.lastname: Espinosa-Padilla
authors.affiliation: Departamento de Biomedicina Molecular, CINVESTAV-IPN, Mexico.
authors.forename: L
authors.initials: L
authors.lastname: Santos-Argumedo
authors.affiliation: Unidad de investigación en inmunodeficiencias, Instituto Nacional de Pediatría, Mexico. Electronic address: blancas.lizbeth@gmail.com.
authors.forename: L
authors.initials: L
authors.lastname: Blancas-Galicia
mesh_terms: D002469:Cell Separation; D041321:Chromosomes, Human, X / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005434:Flow Cytometry / Q000379:methods; D005820:Genetic Testing; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008179:Lupus Erythematosus, Discoid / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008800:Mexico; D010375:Pedigree; D012235:Rhodamines
chemical_list: D012235:Rhodamines; C058319:dihydrorhodamine 123
keywords: 123 dihydrorhodamine; Chronic granulomatous disease; Chronic granulomatous disease carriers; Discoid lupus