Published in:
Open Access
01-11-2013 | Meeting abstract
P03-025 – Differential diagnosis of autoimmune disorders
Authors:
A Kozlova, N Zinovieva, J Bustamante, S Boisson-Dupuis, J-L Casanova, A Shcherbina
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
Login to get access
Excerpt
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. …