Title of article
Skewed Xinactivation in a Female Carrier with Xlinked Chronic Granulomatous Disease
Author/Authors
، Itzel - National Institute of Pediatrics , Deswarte ، Caroline Paris Descartes University, Imagine Institute , Alcantara-Ortigoza ، - National Institute of Pediatrics , Saez-de-Ocariz ، - National Institute of Pediatrics , Yamazaki-Nakashimada ، Marco Antonio - National Institute of Pediatrics , Espinosa-Padilla ، Sara Elva - National Institute of Pediatrics , Bustamante ، Jacinta - Paris Descartes University, Imagine Institute, The Rockefeller University , Blancas-Galicia ، Lizbeth - National Institute of Pediatrics
Pages
5
From page
447
To page
451
Abstract
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 XlinkedCGD attributed to an extremely skewed Xchromosome 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 38yearold Mexican female with juvenileonset X linkedCGD, caused by a de novo mutation and extremely skewed Xinactivation, whose clinical features were similar to those in patients with classic XlinkedCDG.
Keywords
Autoimmunity , Xlinked chronic granulomatous disease carrier , Discoid lupus , Skewed lyonization , Xinactivation , Xlinked chronic granulomatous disease
Journal title
iranian journal of allergy, asthma and immunology
Serial Year
2019
Journal title
iranian journal of allergy, asthma and immunology
Record number
2453632
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