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Mendelian susceptibility to mycobacterial diseases: Specific defects

Gulbu Uzel, MD
Section Editor
Jennifer M Puck, MD
Deputy Editor
Elizabeth TePas, MD, MS


Mendelian susceptibility to mycobacterial diseases (MSMD, MIM #209950) is caused by genetic defects in the mononuclear phagocyte/T helper cell type 1 (Th1) pathway [1]. 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".)


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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Literature review current through: Nov 2017. | This topic last updated: May 16, 2016.
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