Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation

Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation

Chronic granulomatous disease (CGD) is an inherited immunodeficiency resulting from defects in the multienzyme complex NADPH-oxidase (phagozyte oxidase, phox), which normally produces microbicidal reactive oxygen metabolites (ROM). The reason for our patient's CGD was unusual, as revealed by th...

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Détails bibliographiques
Publié dans:Clinical immunology (Orlando, Fla.). - 1999. - 109(2003), 3 vom: 15. Dez., Seite 308-17
Auteur principal: Anderson-Cohen, Mindy (Auteur)
Autres auteurs: Holland, Steve M, Kuhns, Doug B, Fleisher, Thomas A, Ding, Li, Brenner, Sebastian, Malech, Harry L, Roesler, Joachim
Format: Article
Langue:English
Publié: 2003
Accès à la collection:Clinical immunology (Orlando, Fla.)
Sujets:Case Reports Journal Article AR protein, human Cytochrome b Group Membrane Glycoproteins Receptors, Androgen Superoxides 11062-77-4 cytochrome b558 9064-78-2 plus... CYBB protein, human EC 1.6.3.- NADPH Oxidase 2 NADPH Oxidases