Identification of a novel mutation in the CYBB gene, p.Asp378Gly, in a patient with X-linked chronic granulomatous disease

Sang Mi Song; Mi Ran Park; Do Soo Kim; Jihyun Kim; Yae Jean Kim; Chang Seok Ki; Kangmo Ahn

doi:10.4168/aair.2014.6.4.366

Identification of a novel mutation in the CYBB gene, p.Asp378Gly, in a patient with X-linked chronic granulomatous disease

Sang Mi Song
, Mi Ran Park
, Do Soo Kim
, Jihyun Kim
, Yae Jean Kim
, Chang Seok Ki
, Kangmo Ahn

Department of Pediatrics

Sungkyunkwan University

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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.

Original language	English
Pages (from-to)	366-369
Number of pages	4
Journal	Allergy, Asthma and Immunology Research
Volume	6
Issue number	4
DOIs	https://doi.org/10.4168/aair.2014.6.4.366
State	Published - Jul 2014

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

CYBB gene
Chronic granulomatous disease
Immunodeficiency
Mutation

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10.4168/aair.2014.6.4.366

Cite this

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title = "Identification of a novel mutation in the CYBB gene, p.Asp378Gly, in a patient with X-linked chronic granulomatous disease",

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.",

keywords = "CYBB gene, Chronic granulomatous disease, Immunodeficiency, Mutation",

author = "Song, \{Sang Mi\} and Park, \{Mi Ran\} and Kim, \{Do Soo\} and Jihyun Kim and Kim, \{Yae Jean\} and Ki, \{Chang Seok\} and Kangmo Ahn",

year = "2014",

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doi = "10.4168/aair.2014.6.4.366",

language = "English",

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pages = "366--369",

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T1 - Identification of a novel mutation in the CYBB gene, p.Asp378Gly, in a patient with X-linked chronic granulomatous disease

AU - Song, Sang Mi

AU - Park, Mi Ran

AU - Kim, Do Soo

AU - Kim, Jihyun

AU - Kim, Yae Jean

AU - Ki, Chang Seok

AU - Ahn, Kangmo

PY - 2014/7

Y1 - 2014/7

N2 - 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.

AB - 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.

KW - CYBB gene

KW - Chronic granulomatous disease

KW - Immunodeficiency

KW - Mutation

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DO - 10.4168/aair.2014.6.4.366

M3 - Article

AN - SCOPUS:84903438480

SN - 2092-7355

VL - 6

SP - 366

EP - 369

JO - Allergy, Asthma and Immunology Research

JF - Allergy, Asthma and Immunology Research

IS - 4

ER -

Identification of a novel mutation in the CYBB gene, p.Asp378Gly, in a patient with X-linked chronic granulomatous disease

Abstract

UN SDGs

Keywords

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