Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease

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...

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Autores principales: Song, Sang-Mi, Park, Mi-Ran, Kim, Do-Soo, Kim, Jihyun, Kim, Yae-Jean, Ki, Chang-Seok, Ahn, Kangmo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Asthma, Allergy and Clinical Immunology; The Korean Academy of Pediatric Allergy and Respiratory Disease 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077965/
https://www.ncbi.nlm.nih.gov/pubmed/24991462
http://dx.doi.org/10.4168/aair.2014.6.4.366
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author Song, Sang-Mi
Park, Mi-Ran
Kim, Do-Soo
Kim, Jihyun
Kim, Yae-Jean
Ki, Chang-Seok
Ahn, Kangmo
author_facet Song, Sang-Mi
Park, Mi-Ran
Kim, Do-Soo
Kim, Jihyun
Kim, Yae-Jean
Ki, Chang-Seok
Ahn, Kangmo
author_sort Song, Sang-Mi
collection PubMed
description 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.
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spelling pubmed-40779652014-07-02 Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease Song, Sang-Mi Park, Mi-Ran Kim, Do-Soo Kim, Jihyun Kim, Yae-Jean Ki, Chang-Seok Ahn, Kangmo Allergy Asthma Immunol Res Case Report 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. The Korean Academy of Asthma, Allergy and Clinical Immunology; The Korean Academy of Pediatric Allergy and Respiratory Disease 2014-07 2014-01-20 /pmc/articles/PMC4077965/ /pubmed/24991462 http://dx.doi.org/10.4168/aair.2014.6.4.366 Text en Copyright © 2014 The Korean Academy of Asthma, Allergy and Clinical Immunology • The Korean Academy of Pediatric Allergy and Respiratory Disease http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Song, Sang-Mi
Park, Mi-Ran
Kim, Do-Soo
Kim, Jihyun
Kim, Yae-Jean
Ki, Chang-Seok
Ahn, Kangmo
Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease
title Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease
title_full Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease
title_fullStr Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease
title_full_unstemmed Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease
title_short Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease
title_sort identification of a novel mutation in the cybb gene, p.asp378gly, in a patient with x-linked chronic granulomatous disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077965/
https://www.ncbi.nlm.nih.gov/pubmed/24991462
http://dx.doi.org/10.4168/aair.2014.6.4.366
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