PRJNA474897
Autosomal recessive SPPL2a, a novel genetic etiology 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 three patients from two unrelated families suffering of MSMD harboring deleterious mutations in SPPL2A. The immunological consequence of this new genetic diseases is a reduction of CD1c+ dendritic cells (cDC2) and an impaired mycobacterial dependent IFN- immunity.