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KMID : 1225720140060040366
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Allergy, Asthma & Immunology Research : AAIR
2014 Volume.6 No. 4 p.366 ~ p.369
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Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease
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Song Sang-Mi
Park Mi-Ran
Kim Do-Soo
Kim Ji-Hyun
Kim Yae-Jean
Ki Chang-Seok
Ahn Kang-Mo
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Abstract
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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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KEYWORD
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Chronic granulomatous disease, immunodeficiency, CYBB gene, mutation
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