Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease.
10.4168/aair.2014.6.4.366
- Author:
Sang Mi SONG
1
;
Mi Ran PARK
;
Do Soo KIM
;
Jihyun KIM
;
Yae Jean KIM
;
Chang Seok KI
;
Kangmo AHN
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kmaped@skku.edu
- Publication Type:Case Report
- Keywords:
Chronic granulomatous disease;
immunodeficiency;
CYBB gene;
mutation
- MeSH:
Anemia;
Granuloma;
Granulomatous Disease, Chronic*;
Humans;
Hypergammaglobulinemia;
Leukocytosis;
Lung;
Lymph Nodes;
Mutation, Missense;
NADP;
Oxidoreductases;
Phagocytes;
Skin
- From:Allergy, Asthma & Immunology Research
2014;6(4):366-369
- CountryRepublic of Korea
- Language:English
-
Abstract:
Chronic granulomatous disease (CGD) is a rare immunodeficiency disease, which is characterized by the lack of a functional nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. The disease presents leukocytosis, anemia, hypergammaglobulinemia, and granuloma formation of the skin, lung, or lymph nodes. The mutation of the CYBB gene encoding gp91phox, located on chromosome Xp21.1 is one of the causes of CGD. We report a patient with X-linked CGD who carried a novel mutation, a c.1133A>G (paAsp378Gly) missense mutation, in the CYBB gene.
