Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/954
Type: Artigo de periódico
Title: Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency
Author: GUERRA-JUNIOR, G.
GRUMACH, A. Sevciovic
LEMOS-MARINI, S. H. Valente de
KIRSCHFINK, M.
CONDINO NETO, A.
ARAUJO, M. de
MELLO, M. Palandi De
Abstract: The aim of this work was to analyse C4 genotypes, C4 protein levels, phenotypes and genotypes in patients with the classical form of 21-hydroxylase deficiency. Fifty-four patients from 46 families (36 female, 18 male; mean age 10.8 years) with different clinical manifestations (31 salt-wasting; 23 simple-virilizing) were studied. Taq I Southern blotting was used to perform molecular analysis of the C4/CYP21 gene cluster and the genotypes were defined according to gene organization within RCCX modules. Serum C4 isotypes were assayed by enzyme-linked immunosorbent assay. The results revealed 12 different haplotypes of the C4/CYP21 gene cluster. Total functional activity of the classical pathway (CH50) was reduced in individuals carrying different genotypes because of low C4 concentrations (43% of all patients) to complete or partial C4 allotype deficiency. Thirteen of 54 patients presented recurrent infections affecting the respiratory and/or the urinary tracts, none of them with severe infections. Low C4A or C4B correlated well with RCCX monomodular gene organization, but no association between C4 haplotypes and recurrent infections or autoimmunity was observed. Considering this redundant gene cluster, C4 seems to be a well-protected gene segment along the evolutionary process.
Subject: adrenal disease
complement
endocrine immunology disease
MHC
steroids
Country: Estados Unidos
Editor: WILEY-BLACKWELL PUBLISHING, INC
Citation: CLINICAL AND EXPERIMENTAL IMMUNOLOGY, v.155, n.2, p.182-188, 2009
Rights: fechado
Identifier DOI: 10.1111/j.1365-2249.2008.03838.x
Address: http://apps.isiknowledge.com/InboundService.do?Func=Frame&product=WOS&action=retrieve&SrcApp=EndNote&UT=000262282400008&Init=Yes&SrcAuth=ResearchSoft&mode=FullRecord
http://dx.doi.org/10.1111/j.1365-2249.2008.03838.x
Date Issue: 2009
Appears in Collections:FCM - Artigos e Materiais de Revistas Científicas

Files in This Item:
File Description SizeFormat 
art_GUERRA-JUNIOR_Complement_4_phenotypes_and_genotypes_in_Brazilian_2009.pdfpublished version205.58 kBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.