P03-025 – Differential diagnosis of autoimmune disorders
نویسندگان
چکیده
Introduction Mendelian susceptibility to mycobacterial disease (MSMD) is a rare form of primary immunodeficiencies characterized by predisposition for poorly virulent infection agents, primarily non-tuberculous mycobacteria and Salmonella. It has been shown that molecular basis of these diseases is mutations in at least 7 genes in the IL12-dependent IFN-g axis including IFNGR1, IFNGR2, IL-12/IL23RB1, IL-12B, IRF8, NEMO, CYBB and STAT1. There are about 140 patients with IL-12Rb1/IL-23Rb1 deficiency reported up to date, who manifest with various nonspecific inflammatory features due to chronic BCG infection and salmonellosis.
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