[Chronic-granulomatous disease].
Chronic-granulomatous disease (CGD) is a rare inherited primary immunodeficiency syndrome caused by a defective oxidative metabolism of phagocytic cells. Dysfunction of the membranous NADPH oxidase complex leads to a greatly increased susceptibility to severe fungal and bacterial infections, early in childhood. The most severe and frequent type of GCD is the X-linked transmitted form caused by mutations in the CYBB gene encoding the redox element of the oxidase complex, gp91phox or Nox2. However, very rare autosomal recessive CGD affecting other oxidase components than Nox2 are characterized by mild-clinical manifestations that could appear later at the adult age. Long-term antibiotic prophylaxis is essential to prevent infections associated with CGD, but approaches based on hematopoietic stem-cell transplantation and gene therapy offer valuable hope in a near future.
Stasia
M J
MJ
Centre diagnostic et recherche sur la granulomatose septique, CHU Grenoble, Université Joseph-Fourier, Grenoble, France.
Cathebras
P
P
Lutz
M-F
MF
Durieu
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I
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005544:Forecasting; D008040:Genetic Linkage; D015316:Genetic Therapy; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000401:mortality / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics; D011379:Prognosis; D016032:Randomized Controlled Trials as Topic; D033581:Stem Cell Transplantation
D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases