A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.
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چکیده
منابع مشابه
A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews.
Chronic granulomatous disease (CGD) is a rare congenital immune deficiency caused by mutations in any of the five genes encoding NADPH oxidase subunits. One of these genes is NCF1, encoding the p47(phox) protein. A group of 39 patients, 14 of whom are of Kavkazi Jewish descent, was investigated for a founder effect for the mutation c.579G>A (p.Trp193Ter) in NCF1. We analyzed various genetic mar...
متن کاملIdentification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion; significance for A47 chronic granulomatous disease carrier detection Running head: p47-phox pseudogene without signature GT deletion Scientific heading: Phagocytes
word count: 250 Total text word count: 4383 Copyright 2002 American Society of Hematology Blood First Edition Paper, prepublished online May 13, 2002; DOI 10.1182/blood-2002-03-0861 For personal use only. on November 16, 2017. by guest www.bloodjournal.org From
متن کاملp67-phox enhances the binding of p47-phox to the human neutrophil respiratory burst oxidase complex.
The neutrophil respiratory burst oxidase consists of both the plasma membrane-associated flavocytochrome b558 and cytosolic regulatory proteins including p47-phox, p67-phox, and a small GTP-binding protein (Rac1 and/or Rac2). Oxidase activation is thought to result from the assembly of the cytosolic components on the cytochrome. A model has been proposed in which p47-phox binds directly to the ...
متن کاملAlu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).
Mutations that impair expression or function of the components of the phagocyte NADPH oxidase complex cause chronic granulomatous disease (CGD), which is associated with life-threatening infections and dysregulated granulomatous inflammation. In five CGD patients from four consanguineous families of two different ethnic backgrounds, we found similar genomic homozygous deletions of 1,380 bp comp...
متن کاملTwo-exon skipping due to a point mutation in p67-phox--deficient chronic granulomatous disease.
The cytosolic 67-kD protein in phagocytes (p67-phox) and B lymphocytes is one of essential components of the superoxide-generating system in these cells, and its defect causes an autosomal recessive type of chronic granulomatous disease (CGD). We performed mutation analysis of p67-phox mRNA from a CGD patient who lacks the protein and found an in-frame deletion from nucleotide 694 to 879, which...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1997
ISSN: 0021-9738
DOI: 10.1172/jci119721