Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/198644
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
de Lemos-Marini, S H Valente
Kirschfink, M
Condino Neto, A
de Araujo, M
De Mello, M Palandi
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 mono-modular 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: Adolescent
Adrenal Hyperplasia, Congenital
Autoimmune Diseases
Child
Child, Preschool
Complement Activation
Complement C4
Female
Genotype
Haplotypes
Humans
Male
Opportunistic Infections
Phenotype
Recurrence
Steroid 21-hydroxylase
Young Adult
Rights: fechado
Identifier DOI: 10.1111/j.1365-2249.2008.03838.x
Address: http://www.ncbi.nlm.nih.gov/pubmed/19137635
Date Issue: 2009
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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