Article
Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.
Clinical and experimental immunology - 1 Feb 2009
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 excerpt
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...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Autoimmune Diseases
- Child
- Child, Preschool
- Complement Activation
- Complement C4
- Female
- Genotype
- Haplotypes
- Humans
- Male
- Opportunistic Infections