Pedraza S, Aldana R, Herrera MT, Torres M, Bustamante J

Language: Spanish
References: 39
Page: 88-99
PDF size: 422.28 Kb.

ABSTRACT

Mendelian Susceptibility to Mycobacterial Diseases (MSMD) constitutes an atypical Primary Immunodeficiency caused by defects in IFN-γ-mediated immunity, making affected individuals especially prone to infections by intracellular Mycobacterium and Salmonella bacteria. Localized or disseminated BCG infections, as a consequence of vaccination, are common in affected individuals. The known mutations in persons with MSMD are found in genes controlling IFN-γ production (IL12B and ILRB) or genes driving the response to IFN-γ (IFNGR1, IFNGR2 and STAT1). This review paper deals with the biological and medical aspects of MSMD and highlights practical points to identify patients to be diagnosed with these immunodeficiencies.

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