L Berrón-Ruiz1, A Morín-Contreras1, V Cano-García1, M A Yamazaki-Nakashimada2, H Gómez-Tello3, M E Vargas-Camaño4, R Canseco-Raymundo5, F Saracho-Weber6, D Pietropaolo-Cienfuegos7, B Del Río-Navarro7, T Staines-Boone8, F Espinosa-Rosales1, A González-Del Ángel9, M M Saenz-de-Ocaris10, D Pacheco-Rosas11, S Espinosa-Padilla1, L Santos-Argumedo12, L Blancas-Galicia13. 1. Unidad de investigación en inmunodeficiencias, Instituto Nacional de Pediatría, Mexico. 2. Servicio de Inmunología, Instituto Nacional de Pediatría, Mexico. 3. Servicio de Alergia, Hospital del Niño Poblano, Mexico. 4. Servicio de Inmunología y Alergia, Centro Médico Nacional 20 de Noviembre, Mexico. 5. Departamento Clínico de Alergia e Inmunología, Hospital de Especialidades CMN la Raza, Mexico. 6. Jefatura de Enseñanza, Hospital infantil del Estado de Chihuahua, Mexico. 7. Servicio de Alergia, Hospital Infantil de México, Mexico. 8. Servicio de Inmunología, Unidad médica de alta especialidad # 25 IMSS, Mexico. 9. Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Mexico. 10. Servicio de Dermatología, Instituto Nacional de Pediatría, Mexico. 11. Servicio de Infectología, Hospital de Pediatría, CMN siglo XXI, Argentina. 12. Departamento de Biomedicina Molecular, CINVESTAV-IPN, Mexico. 13. Unidad de investigación en inmunodeficiencias, Instituto Nacional de Pediatría, Mexico. Electronic address: blancas.lizbeth@gmail.com.
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 world.
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.
Authors: Lizbeth Blancas-Galicia; Eros Santos-Chávez; Caroline Deswarte; Quentin Mignac; Isabel Medina-Vera; Ximena León-Lara; Manon Roynard; Selma C Scheffler-Mendoza; Ricardo Rioja-Valencia; Alexandra Alvirde-Ayala; Saul O Lugo Reyes; Tamara Staines-Boone; Jorge García-Campos; Omar J Saucedo-Ramírez; Blanca E Del-Río Navarro; Antonio Zamora-Chávez; Arturo López-Larios; Susana García-Pavón-Osorio; Eugenia Melgoza-Arcos; María R Canseco-Raymundo; Dolores Mogica-Martínez; Marco Venancio-Hernández; Daniel Pacheco-Rosas; Sigifredo Pedraza-Sánchez; Martha Guevara-Cruz; Federico Saracho-Weber; Berenise Gámez-González; Guillermo Wakida-Kuzunoki; Ana R Morán-Mendoza; Ana P Macías-Robles; Roselia Ramírez-Rivera; Eugenia Vargas-Camaño; Carmen Zarate-Hernández; Héctor Gómez-Tello; Emmanuel Ramírez-Sánchez; Fredy Ruíz-Hernández; Domingo Ramos-López; Héctor Acuña-Martínez; María L García-Cruz; María G Román-Jiménez; Marina G González-Villarreal; Aristóteles Álvarez-Cardona; Beatriz A Llamas-Guillén; Jennifer Cuellar-Rodríguez; Alberto Olaya-Vargas; Nideshda Ramírez-Uribe; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Francisco J Espinosa-Rosales; Jeanet Serafín-López; Marco Yamazaki-Nakashimada; Sara Espinosa-Padilla; Jacinta Bustamante Journal: J Clin Immunol Date: 2020-02-10 Impact factor: 8.542