Tehran University of Medical Sciences Iranian Journal of Allergy, Asthma and Immunology 1735-1502 18 4 2019 08 17 447 451 EN 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 2019 01 14 2019 02 12 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. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2275 https://ijaai.tums.ac.ir/index.php/ijaai/article/download/2275/1432