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Iranian Journal of Allergy, Asthma and Immunology، جلد ۱۸، شماره ۴، صفحات ۴۴۷-۴۵۱
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عنوان انگلیسی Skewed X-inactivationinaFemale Carrierwith X-linked Chronic Granulomatous Disease
چکیده انگلیسی مقاله 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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نویسندگان مقاله | Itzel López-Hernández
Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico


| Caroline Deswarte
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


| Miguel Ángel Alcantara-Ortigoza
Department of Genetics, Laboratory of Molecular Biology, National Institute of Pediatrics, Mexico City, Mexico


| María del Mar Saez-de-Ocariz
Department of Dermatology, National Institute of Pediatrics, Mexico City, Mexico


| Marco Antonio Yamazaki-Nakashimada
Department of Clinical Immunology, National Institute of Pediatrics, Mexico City, Mexico


| Sara Elva Espinosa-Padilla
Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico


| Jacinta Bustamante
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


| Lizbeth Blancas-Galicia
Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico
نشانی اینترنتی http://ijaai.tums.ac.ir/index.php/ijaai/article/view/2275
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