Allergy Asthma Immunol Res.  2014 Jul;6(4):366-369. 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

• Song SM
• Park MR
• Kim DS
• Kim J
• Kim YJ
• Ki CS
• Ahn K

• KMID: 2260219
• DOI: http://doi.org/10.4168/aair.2014.6.4.366

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.

Keyword

Chronic granulomatous disease; immunodeficiency; CYBB gene; mutation

MeSH Terms

Anemia
Granuloma
Granulomatous Disease, Chronic*
Humans
Hypergammaglobulinemia
Leukocytosis
Lung
Lymph Nodes
Mutation, Missense
NADP
Oxidoreductases
Phagocytes
Skin
NADP
Oxidoreductases

Figure

• 

  Fig. 1 (A) Chest X-ray showed patchy consolidation in the right middle lobe and increased peribronchial opacity in the bilateral lower lung fields. (B) Chest CT showed air bronchogram and consolidation in the left lower lobe and atelectasis with pleural effusion in the right lower lobe.

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  Fig. 2 Histograms of the dihydrorhodamine (DHR) assay of granulocytes from the patient, his mother and a normal subject. DHR assay of the patient's granulocyte (A) revealed the near absence of fluorescence upon granulocyte stimulation. The stimulation index (SI) was 1.4 which was compatible with X-CGD. The DHR assay of granulocytes from the patient's mother (B) and a normal subject (C) showed a histogram with SI 25 and 127.9, respectively.

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  Fig. 3 Analysis of a CYBB gene exon of the patient (A), his mother (B) and a normal subject (C). Chromatogram of a CYBB exon of the patient showed a novel complex mutation, c.1133A>G (p.Asp378Gly).

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