Artículos de revistas
Complement 4 Phenotypes And Genotypes In Brazilian Patients With Classical 21-hydroxylase Deficiency.
Registro en:
Clinical And Experimental Immunology. v. 155, n. 2, p. 182-8, 2009-Feb.
1365-2249
10.1111/j.1365-2249.2008.03838.x
19137635
Autor
Guerra-Junior, G
Grumach, A Sevciovic
de Lemos-Marini, S H Valente
Kirschfink, M
Condino Neto, A
de Araujo, M
De Mello, M Palandi
Institución
Resumen
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. 155 182-8