Authors: F Parlato Gustavo Pisano M Brillante R Ferrone M R Cavalcanti E Cosentini G Misiano M Brai A Bellastella
Publish Date: 2014/04/09
Volume: 17, Issue: 8, Pages: 635-639
Abstract
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 21hydroxylase deficiency in classical form C210HD and in their parents in whom a previous HLAC4Bf 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 study Among parents some subjects showed presence of anticardiolipin antibodies and high levels of circulating immunocomplexes No alterations in C3 and Ig levels were observed A reduced percentage of CD4 suppressorinducer CD4SI p005 in M210HD and in parents vs controls and increased percentage of CD4 helperinducer CD4HI p005 in both groups vs controls were found No alterations were evidenced in C210HD patients Data about association between 21hydroxylase deficiency and autoimmune diseases are rare Our results confirm that 210HD could be associated to an unbalancement of immune system function and suggest that non immune genes like 21hydroxylase one may influence the expression of autoimmune diseases at least in presence of peculial extended haplotypes
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