. Defects of innate immunity .
Mendelian susceptibility to mycobacterial disease (MSMD) is a PID characterized by genetic defects in the IL-12/Interferon-γ–dependent signalling pathway, with impairment of the production or the response to IFN-γ. These pathways are critical for granuloma formation and for killing intracellular bacteria.
- Disseminated or recurrent infections with M. avium, M. bovis BCG, and M. tuberculosis
- Persistent, recurrent, or extraintestinal non-typhi salmonellosis, oportunistic infections
- Chronic fever,wasting, hepatosplenomegaly, lymphadenopathy, anaemia
- Onset: infancy, adulthood (rare)
- Few families reported
Service benefits and management
- Genetic diagnosis and counselling
- Hematopoietic stem cell transplantation (HSCT)
- Recombinant IFNs
CCL2, CYBB, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ISG15, JAK1, MC3R, MRC1, RORC, SLC11A1, STAT1, TLR1, TLR2, TYK2