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...
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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 |