. Defects of innate immunity .

Mendelian Susceptibility to Mycobacterial Disease (MSMD) panel [17 genes]

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.

Clinical features

  • 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)

Prevalence

  • Rare
  • Few families reported

Service benefits and management

  • Genetic diagnosis and counselling
  • Hematopoietic stem cell transplantation (HSCT)
  • Recombinant IFNs
  • Antibiotics

CCL2, CYBB, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ISG15, JAK1, MC3R, MRC1, RORC, SLC11A1, STAT1, TLR1, TLR2, TYK2

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