Inborn errors of interferon-gamma (IFN-?)-mediated immunity underlie disseminated disease caused by Mycobacterium bovis Bacillus Calmette-Guérin (BCG) live vaccines. We hypothesized that some patients with osteitis after BCG vaccination may have an impaired IFN-? immunity. Our aim was to investigate interleukin (IL)-12 and IFN-? ex vivo production stimulated with BCG and BCG + IFN-? or BCG + IL-12, respectively, in BCG osteitis survivors.
Fresh blood samples were collected from 132 former BCG osteitis Finnish patients now aged 21-49 years, and IL-12 and IFN-? were measured in cell cultures with and without stimulation with BCG and with BCG + IFN-? or BCG + IL-12, respectively. As a pilot study, known disease-causing genes controlling IFN-? immunity (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, ISG15, IRF8, NEMO and CYBB) were investigated in 20 selected patients by whole exome sequencing.