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Titolo:
Deficiency of the specific granule proteins, R binder/transcobalamin I andlactoferrin, in plasma and saliva: A new disorder
Autore:
Lin, JC; Borregaard, N; Liebman, HA; Carmel, R;
Indirizzi:
New York Methodist Hosp, Dept Med, Brooklyn, NY 11215 USA New York Methodist Hosp Brooklyn NY USA 11215 Med, Brooklyn, NY 11215 USA Rigshosp, Granulocyte Res Lab, DK-2100 Copenhagen, Denmark Rigshosp Copenhagen Denmark DK-2100 Res Lab, DK-2100 Copenhagen, Denmark USC, Ctr Med, Dept Med, Los Angeles, CA USA USC Los Angeles CA USAUSC, Ctr Med, Dept Med, Los Angeles, CA USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 2, volume: 100, anno: 2001,
pagine: 145 - 151
SICI:
0148-7299(20010422)100:2<145:DOTSGP>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN NEUTROPHILS; ULTRASTRUCTURAL-LOCALIZATION; GENE-EXPRESSION; VITAMIN-B12; BINDER; GLANDS; INFECTIONS; GELATINASE; LEUKEMIA; PATIENT;
Keywords:
specific granule proteins; transcobalamin I; lactoferrin; cobalamin; saliva;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
43
Recensione:
Indirizzi per estratti:
Indirizzo: Carmel, R New York Methodist Hosp, Dept Med, 506 6th St, Brooklyn, NY 11215 USA New York Methodist Hosp 506 6th St Brooklyn NY USA 11215 215 USA
Citazione:
J.C. Lin et al., "Deficiency of the specific granule proteins, R binder/transcobalamin I andlactoferrin, in plasma and saliva: A new disorder", AM J MED G, 100(2), 2001, pp. 145-151

Abstract

The mechanisms of hereditary deficiency of R binder, which originates in neutrophils and exocrine gland epithelium, are unknown and may be multiple. This led us to examine if defective R binder synthesis also involves proteins that colocalize with it in neutrophil-specific granules and exocrine epithelial cells and may be under common regulatory control. Stored plasma andsaliva samples from five unrelated R binder-deficient patients and controlsubjects were assayed for R binder, lactoferrin, cationic antimicrobial protein-is, neutrophil gelatinase-associated lipocalin, gelatinase, lysozyme,and myeloperoxidase, One patient, patient A, had lactoferrin levels below the limits of detection in both plasma and saliva in addition to his R binder deficiency. Although his deficiency involved lactoferrin as well, he hadno history of predisposition to infection. PCR amplification of his R kinder gene promoter region and the beginning of the first exon revealed no DNAabnormalities. His son and the son of his equally deficient brother, both presumptive heterozygotes, had mild deficiency of both R binder and lactoferrin, The results show that R binder deficiency exists in at least two forms. One, presumably the less common of the two forms, is the new hereditary entity described here, which is characterized by deficiency of more than one specific granule protein in both plasma and saliva. Despite this more widely distributed absence of the proteins than is found in congenital specific granule deficiency, infection posed no clinical problem in the affected patient. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 00:07:34