Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease.

Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease. Iran J Allergy Asthma Immunol. 2019 Aug 17;18(4):447-451 Authors: López-Hernández I, Deswarte C, Alcantara-Ortigoza MÁ, Saez-de-Ocariz MDM, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Bustamante J, Blancas-Galicia L 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 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. PMID: 31522453 [PubMed - in process]
Source: Iranian Journal of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: Iran J Allergy Asthma Immunol Source Type: research