Autosomal recessive IL-12Rß2 and IL-23R, novel genetic etiologies of mycobacterial disease

The genetic cause of patients with Mendelian susceptibility to mycobacterial diseases (MSMD) is not known in half of the patients. We studied five patients suffering of MSMD harboring deleterious mutations in IL12RB2 or IL23R. The immunological consequence of this new genetic diseases is a lack of response to IL-12 or IL-23 leading to an impaired IFN-g-mediated anti-mycobacterial immunity.