Publication Date:
1988-12-02
Description:
Chronic granulomatous diseases of childhood (CGD) are a group of disorders of phagocytic cell superoxide (O2.-) production (respiratory burst). Anion exchange chromatography separated from normal neutrophil cytosol a 47-kilodalton neutrophil cytosol factor, NCF-1, that restored activity to defective neutrophil cytosol from most patients with autosomally inherited CGD in a cell-free O2.--generating system. A 65-kilodalton factor, NCF-2, restored activity to defective neutrophil cytosol from one patient with autosomal CGD. NCF-1, NCF-2, and a third cytosol fraction, NCF-3, were inactive alone or in pairs, but together replaced unfractionated cytosol in cell-free O2.- generation. Neutrophils deficient in NCF-1, but not NCF-2, did not phosphorylate the 47-kilodalton protein. It is proposed that NCF-1, NCF-2, and NCF-3 are essential for generation of O2.- by phagocytic cells and that genetic abnormalities of these cytosol components can result in the CGD phenotype.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Nunoi, H -- Rotrosen, D -- Gallin, J I -- Malech, H L -- New York, N.Y. -- Science. 1988 Dec 2;242(4883):1298-301.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Bacterial Diseases Section, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2848319" target="_blank"〉PubMed〈/a〉
Keywords:
Blotting, Western
;
Cell Membrane/metabolism
;
Cytosol/metabolism
;
Granulomatous Disease, Chronic/*metabolism
;
Humans
;
In Vitro Techniques
;
Molecular Weight
;
Neutrophils/*metabolism
;
Phosphoproteins/metabolism
;
Superoxides/*biosynthesis
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
