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Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease.
López-Hernández, Itzel; Deswarte, Caroline; Alcantara-Ortigoza, Miguel Ángel; Saez-de-Ocariz, María Del Mar; Yamazaki-Nakashimada, Marco Antonio; Espinosa-Padilla, Sara Elva; Bustamante, Jacinta; Blancas-Galicia, Lizbeth.
Afiliación
  • López-Hernández I; Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico. itzelh.lh.31@gmail.com.
  • Deswarte C; Paris Descartes University, Imagine Institute, Paris, France AND Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France. caroline.deswarte@inserm.fr.
  • Alcantara-Ortigoza MÁ; Department of Genetics, Laboratory of Molecular Biology, National Institute of Pediatrics, Mexico City, Mexico. malcantaraortigoza@gmail.com.
  • Saez-de-Ocariz MDM; Department of Dermatology, National Institute of Pediatrics, Mexico City, Mexico. mariadelmar71@prodigy.net.mx.
  • Yamazaki-Nakashimada MA; Department of Clinical Immunology, National Institute of Pediatrics, Mexico City, Mexico. yzki71@yahoo.com.mx.
  • Espinosa-Padilla SE; Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico. saraelvaespino@gmail.com.
  • Bustamante J; Paris Descartes University, Imagine Institute, Paris, France AND St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA. jacinta.bustamante@inserm.fr.
  • Blancas-Galicia L; Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico. blancas.lizbeth@gmail.com.
Iran J Allergy Asthma Immunol ; 18(4): 447-451, 2019 Aug 17.
Article en En | MEDLINE | ID: mdl-31522453
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocytic NADPH oxidase, causing a complete lack or significant decrease in the production of microbicidal reactive oxygen metabolites. It mainly affects male children; however, there are scarce reports of adult females diagnosed with X-linked-CGD attributed to an extremely skewed X-chromosome inactivation. This condition is characterized by severe and recurrent infections that usually develop after childhood. In clinical practice, physicians who usually confront these patients should suspect this entity and differentiate it from a secondary immunodeficiency. Here, we report a 38-year-old Mexican female with juvenile-onset X linked-CGD, caused by a de novo mutation and extremely skewed X-inactivation, whose clinical features were similar to those in patients with classic X-linked-CDG.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Inactivación del Cromosoma X / Enfermedad Granulomatosa Crónica / Heterocigoto Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Iran J Allergy Asthma Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2019 Tipo del documento: Article País de afiliación: México Pais de publicación: Irán
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Inactivación del Cromosoma X / Enfermedad Granulomatosa Crónica / Heterocigoto Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Iran J Allergy Asthma Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2019 Tipo del documento: Article País de afiliación: México Pais de publicación: Irán