Focus on FOCIS : the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease

Chronic granulomatous disease (CGD) is a primary immunodeficiency of defective neutrophil oxidative burst activity due to mutations in the genes CYBA, NCF-1, NCF-2, and CYBB, which respectively encode the p22-phox, p47-phox, p67-phox, and gp91-phox subunits. CGD usually presents in early childhood w...

Description complète

Détails bibliographiques
Publié dans:Clinical immunology (Orlando, Fla.). - 1999. - 128(2008), 2 vom: 31. Aug., Seite 117-26
Auteur principal: Yu, Grace (Auteur)
Autres auteurs: Hong, David K, Dionis, Kira Y, Rae, Julie, Heyworth, Paul G, Curnutte, John T, Lewis, David B
Format: Article en ligne
Langue:English
Publié: 2008
Accès à la collection:Clinical immunology (Orlando, Fla.)
Sujets:Case Reports Journal Article Research Support, Non-U.S. Gov't Phosphoproteins neutrophil cytosol factor 67K NADPH Oxidases EC 1.6.3.- NCF2 protein, human EC 1.6.3.1