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Title: Autosomal recessive chronic granulomatous disease associated with 18q-syndrome and end-stage renal failure due to Henoch-Schönlein nephritis
Authors: Kimpen, J
Lombaerts, Rita
Van den Berghe, G
Proesmans, Willem #
Issue Date: Mar-1991
Series Title: European Journal of Pediatrics vol:150 issue:5 pages:325-6
Abstract: Chronic granulomatous disease (CGD) is an inherited disorder in which phagocytes, including polymorphonuclear neutrophils, are unable to generate oxygen-derived microbicidal compounds, among them superoxide. Two main types of CGD are known, an X-linked form which is normally associated with the absence of cytochrome b558, a component of the membrane-associated reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase which generates superoxide and an autosomal recessive form, in which cytochrome b558 is present, caused by the deficiency of a cytosolic factor required to activate NADPH oxidase. Patients with the X-linked type are highly susceptible to infections; those with the autosomal recessive form may be less severely affected. We report the unusual association of autosomal CGD with 18q--syndrome in a girl who developed terminal renal insufficiency caused by Henoch-Schönlein nephritis, and speculate on the possibility that the gene defect of autosomal recessive CGD may be located on chromosome 18.
ISSN: 0340-6199
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Pediatric Immunology
# (joint) last author

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