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...
Veröffentlicht in: | Clinical immunology (Orlando, Fla.). - 1999. - 109(2003), 3 vom: 15. Dez., Seite 308-17 |
---|---|
1. Verfasser: | |
Weitere Verfasser: | , , , , , , |
Format: | Aufsatz |
Sprache: | English |
Veröffentlicht: |
2003
|
Zugriff auf das übergeordnete Werk: | Clinical immunology (Orlando, Fla.) |
Schlagworte: | Case Reports Journal Article AR protein, human Cytochrome b Group Membrane Glycoproteins Receptors, Androgen Superoxides 11062-77-4 cytochrome b558 9064-78-2 mehr... |