IFNGR1 and tuberculosis: These studies paved the way for the identification of the first children with Mendelian predispositions to bona fide TB: autosomal recessive IFN-γR1 deficiency in a child not vaccinated with BCG, autosomal recessive IL-12p40 deficiency in a child who also had disseminated BCG disease (known as BCG-osis), XR-MSMD1 (NEMO) in a child without BCG vaccination [21] and XR-MSMD2 (CYBB) in a child not vaccinated with BCG [23].