0000000000827673
AUTHOR
E. Cosentini
HLADR5 and C4BQ0 high frequency and antinuclear antibodies positivity in patients with 21 hydroxylase deficiency from Campania region
HLA haplotypes, complement C4 factor and factor B immonochemical concentrations and autoantibodies titer have been studied in six patients with mild congenital adrenal hyperplasia (MC-AH), in two patients with classical congenital adrenal hyperplasia (CCAH) and in their parents. A high frequency of DR5 and C4BQO alleles have been found in MCAH patients. Moreover, C4BQO allele is carried out in three out of four cases associated with DR5. In the two CCAH patients we found a B51 and a B14 allele, the last one usually described in the non classical form of the disease in population of different ethnic origin. Signs of autoimmunity in some patients and parents have been found. C4 null alleles w…
Immunological pattern in patients with 21-hydroxylase deficiency.
The aim of this work was to perform an immunological study in six patients with 21 hydroxylase deficiency in mild form (M210HD) and in 2 patients with 21-hydroxylase deficiency in classical form (C210HD) and in their parents, in whom a previous HLA,C4,Bf typing demonstrated high prevalence of DR5 and phenotypic absence of fraction C4B of complement (C4BQO). This study contains the evaluation of C3, IgA, IgG, IgM levels, anticardiolipin antibodies (IgG and IgM) and circulating immunocomplexes. A study of lymphocyte subsets was also performed. Among M210HD 1 patient showed presence of anticardiolipin antibodies both IgM and IgG; this patient had shown antinuclear antibodies in a previous stud…