Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme ... Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.'
Baehner and Nathan (1968) observed a 17-year-old female born of first cousins who showed a clinical course and leukocyte behavior in vitro like those in affected males with X-linked CGD. Chromosomes were normal. The nitroblue tetrazolium (NBT) test ... Baehner and Nathan (1968) observed a 17-year-old female born of first cousins who showed a clinical course and leukocyte behavior in vitro like those in affected males with X-linked CGD. Chromosomes were normal. The nitroblue tetrazolium (NBT) test of leukocytes was normal in all relatives. Yamada et al. (2000) reported a 33-year-old Japanese woman with cytochrome b-negative CGD who had recurrent pneumonia and osteomyelitis caused by various bacteria and Aspergillus. At the age of 33 years, she had renal insufficiency as a result of the nephrotoxic side effects of antifungal drugs and was being treated with hemodialysis. Her parents were related. Stasia et al. (2002) reported a 5-year-old girl who presented with recurrent bacterial infections and mycosis since the first month of life. The parents were unrelated but lived in a small isolated village in which autarky was said to have existed for several generations. Teimourian et al. (2008) reported 8 patients from 7 unrelated consanguineous Iranian families with cytochrome b-negative CGD. Patients had a clinical history of recurrent severe infections, including pneumonia, lymphadenitis, liver abscesses, and pyodermatitis. Four of the patients presented before 1 year of age. Genetic analysis identified homozygous mutation or deletion of the CYBA gene (see, e.g., 608508.0012) in all patients.
Clark et al. (1989) concluded that the form of CGD caused by mutation in the CYBA gene represents about 5% of all CGD cases.
In 3 patients with autosomal recessive cytochrome b-negative CGD, Dinauer et al. ... Clark et al. (1989) concluded that the form of CGD caused by mutation in the CYBA gene represents about 5% of all CGD cases. In 3 patients with autosomal recessive cytochrome b-negative CGD, Dinauer et al. (1990) identified 4 mutations in the CYBA gene (608508.0001-608508.0004). One of the patients had been described by Baehner and Nathan (1968). Yamada et al. (2000) performed mutation analysis on 3 female patients with cytochrome b-negative CGD and found 2 novel mutations in the CYBA gene. One patient with the severe phenotype had a homozygous nonsense mutation in exon 1 (608508.0009); the other 2 patients with mild phenotypes shared the same homozygous missense mutation in exon 2 (608508.0010). The latter 2 patients, but not the first, were demonstrated to have detectable p22-phox expression and significant granulocyte respiratory burst activity, consistent with the milder phenotype. In a 5-year-old girl with cytochrome b-negative CGD, Stasia et al. (2002) identified a mutation in the CYBA gene (608508.0011).