Mendelian susceptibility to mycobacterial diseases: Specific defects
- Gulbu Uzel, MD
Gulbu Uzel, MD
- Clinical Investigator
- National Institute of Allergy and Infectious Diseases
- National Institutes of Health
Mendelian susceptibility to mycobacterial diseases (MSMD, MIM #209950) is caused by genetic defects in the mononuclear phagocyte/T helper cell type 1 (Th1) pathway . Patients with MSMD have increased susceptibility to systemic infections with weakly virulent nontuberculous mycobacteria (NTM) including the Bacillus Calmette-Guérin (BCG) vaccine strain. This topic reviews specific forms of MSMD. The pathogenesis, presentation, diagnosis, and general management of MSMD are reviewed separately. (See "Mendelian susceptibility to mycobacterial diseases: An overview".)
INTERFERON-GAMMA RECEPTOR DEFICIENCIES
Mutations in both interferon-gamma receptor (IFN-gamma-R) chains have been identified and characterized [2-9]:
●Interferon-gamma receptor 1 deficiency (IFNGR1, gene encoded on chromosome 6q23-q24)
●Interferon-gamma receptor 2 deficiency (IFNGR2, gene encoded on chromosome 21q22.1-q22.2)
Autosomal recessive (AR) defects in IFNGR1 and IFNGR2 result in complete or partial deficiencies. Autosomal dominant (AD) inheritance resulting in partial deficiencies is also observed for both genes [1,10].
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- INTERFERON-GAMMA RECEPTOR DEFICIENCIES
- Autosomal recessive complete interferon-gamma receptor deficiencies
- Autosomal dominant partial interferon-gamma receptor deficiencies
- Autosomal recessive partial interferon-gamma receptor deficiencies
- IL-12 RECEPTOR BETA1 DEFICIENCY
- IL-12 p40 DEFICIENCY
- STAT1 DEFICIENCY
- Autosomal recessive STAT1 deficiency
- Autosomal dominant STAT1 deficiency
- IRF8 DEFICIENCY
- GATA2 DEFICIENCY (MonoMAC SYNDROME)
- ISG15 DEFICIENCY
- X-LINKED DEFECTS