Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:1.6.3.1 (NADPH oxidase)
 11,281 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Human B lymphocytes express components of the superoxide generating system of phagocytes, NADPH oxidase. We studied regulation of this 'B-cell oxidase' during in vitro blast transformation, using Lucigenin-amplified chemiluminescence (CL) to detect superoxide release. While freshly isolated tonsil B lymphocytes showed no CL responses, culture with phorbol myristate acetate (PMA) and ionomycin induced susceptibility to CL triggering by anti-IgM and anti-HLA-DR. Maximal effects were observed after 3 days of culture with 0.4 ng/ml PMA + 1 microgram/ml ionomycin. Cells from such B lymphoblast cultures showed no CL responses to opsonized zymosan. In contrast, peripheral blood mononuclear cells, where monocytes are the predominant oxidant source, showed CL responses to opsonized zymosan but not to anti-IgM and anti-HLA-DR, either before or after culture with PMA + ionomycin. Culture of B cells with the surface immunoglobulin cross-linking agent staphylococcus aureus Cowan I also led to emergence of a CL, response to anti-IgM, which was enhanced by interferon-gamma. Interestingly, markedly fewer B blasts than freshly isolated B lymphocytes expressed cytochrome b-558 surface antigen. Thus, the B-cell oxidase is up-regulated during blast transformation and can be triggered via surface IgM and HLA-DR; however, this appears to be restricted to a subset of B lymphoblasts.
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PMID:B lymphoblasts show oxidase activity in response to cross-linking of surface IgM and HLA-DR. 131 85

Chronic granulomatous disease (CGD) is a primary immunodeficiency, a phagocyte defect that appears in 1:200,000 live births and is produced by mutations in the genes that codify for the enzyme nicotinamide adenine dinucleotide phosphate oxidase (NADPH oxidase). The inheritance form is X linked (> 60%) or autosomic recesive (30-40%). The NADPH oxidase is responsible for the production of reactive oxygen species (ROS) in the activated phagocyte ("respiratory burst"). When present, mutations on the NAPDH oxidase genes do not allow the ROS production, making the neutrophils of these patients incapable to destroy pathogens. These patients are especially susceptible to infections by staphylococcus, fungi and some gram-negative bacteria. The main clinical manifestations include recurrent life-threatening episodes of lymphadenitis, abscess, pneumonias, osteomyelitis, granuloma formation and sepsis. The diagnosis is suggested by a history of recurrent infections, familiar cases, fail to grow and confirmed with an altered test of ROS production and the specific mutation. Allogenic stem cells transplant is the curative treatment. The early diagnosis and the treatment with prophylactic antibiotics and interferon-gamma have modified favorably the morbidity and mortality of these patients.
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PMID:[Chronic granulomatous disease]. 1999 20