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Mendelian susceptibility to mycobacterial disease (MSMD); familial disseminated atypical mycobacterial infection
Epidemiology: rare
Pathology:
1) confers predisposition to illness caused by
a) moderately virulent mycobacterial species
1] Bacillus calmette-Guerin (BCG) vaccine
2] environmental non-tuberculous mycobacteria
b) more virulent Mycobacterium tuberculosis
2) other microorganisms rarely cause severe clinical disease
3) exception of Salmonella which infects less than 50%
4) pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity;
Genetics:
1) genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance
2) associated with mutations in
a) IFNGR1 (CDw119), IFNGR2
b) IL12RB1
c) STAT1 gene
Clinical manifestations:
1) some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood
2) others develop disseminated, but curable infections, with tuberculoid granulomas later in life
Related
CDw119; interferon-gamma receptor alpha chain; IFN-gamma-R1; CD119 (IFNGR1)
interleukin-12 subunit beta; IL-12B; cytotoxic lymphocyte maturation factor 40 kD subunit; CLMF p40; IL-12 subunit p40; NK cell stimulatory factor chain 2; NKSF2 (IL12B NKSF2)
General
genetic disease of the immune system
Database Correlations
OMIM 209950
References
OMIM :accession 209950