La granulomatose septique chronique est une maladie caractérisée par un déficit du pouvoir bactéricide du polynucléaire neutrophile. Les manifestations. La granulomatose septique chronique (CGD) est une maladie héréditaire orpheline, survenant avec une fréquence de 1/ individus, répertoriée comme. Search. Home / Resource / Granulomatose septique chronique. You are here. Home. PDF icon Download ( MB). Granulomatose septique chronique.

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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 CYB B 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.

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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. Chronic-granulomatous disease, Immune deficiciency, Recurrent infections, Stem-cell transplantation.

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Orphanet: Granulomatose chronique Granulomatose septique chronique

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Outline Masquer le plan. Les variants rares de la granulomatose septique septiqje. Top of the page – Article Outline. Contact Help Who are we?

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Chroniwue can move this window by clicking on the headline. Physiopathologie de la granulomatose septique chronique Phagocytose et microbicidie.

Diagnostic clinique Infections au cours de la granulomatose septique chronique.

Diagnostic biologique Diagnostic fonctionnel. Traitement et pronostic Traitements de la granulomatose septique chronique.

La granulomatose septique chronique Chronic-granulomatous disease.