IMMUNOLOGICAL PATTERN IN PATIENTS WITH 21-HYDROXYLASE DEFICIENCY

The aim of this work was to perform an immunological study in six pati ents with 21 hydroxylase deficiency in mild form (M21OHD) and in 2 pat ients 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 immunocompl exes. A study of lymphocyte subsets was also performed. Among M210HD 1 patient showed presence of anticardiolipin antibodies both IgM and Ig G; this patient had shown antinuclear antibodies in a previous study. Among parents, some subjects showed presence of anticardiolipin antibo dies and high levels of circulating immunocomplexes. No alterations in C3 and Ig levels were observed. A reduced percentage of CD4 suppresso r-inducer (CD4-SI) (p<0.05 in M210HD and in parents vs controls) and i ncreased percentage of CD4 helper-inducer (CD4-HI) (p<0.05 in both gro ups vs controls) were found. No alterations were evidenced in C210HD p atients. Data about association between 21-hydroxylase deficiency and autoimmune diseases are rare. Our results confirm that 210HD could be associated to an unbalancement of immune system function and suggest t hat non immune genes, like 21-hydroxylase one, may influence the expre ssion of autoimmune diseases at least in presence of peculial extended haplotypes.