Characterization of two novel mutations in IL-12R signaling in MSMD patients

Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare syndrome with infections—among other complications—after Bacillus Calmette-Guerin (BCG) vaccination in children. We focused on the IL-12/IFN-γ pathway to identify new mutations in our patients. This study included 20 patients by vulnerability to mycobacteria and clinical manifestations of severe, recurrent infections. Blood samples were activated with BCG, BCG + IL-12 and BCG +...