Mendelian susceptibility to mycobacterial disease

Abstract

Mendelian susceptibility to mycobacterial diseases (MSMD)is a rare congenital disorder characte-rized by susceptibility to poorly virulent mycobacteria, such as Bacille Calmette-Guerin vaccine or non-tuberculous environmental mycobacteria.The interferon-γ(IFN-γ)/interleukin-12(IL-12) pathway is central to controlling mycobacterial infections, in which several genes had been identified.IFN-γ secretion is impaired in patients with IL-12p40 and IL-12 receptor β1 deficiency, where the response to IFN-γ is impaired in patients with IFN-γ receptor 1, IFN-γ receptor 2, and signal transducer and activator of transcription 1 deficiencies.Furthermore, germline mutations in the cytochrome b (-245) beta subunit, interferon regulatory factor 8, ubiquitin-like modifier, RORC and TYK2 have been identified as the genes which are responsible for MSMD.These patients do not generally have associa-ted infections, apart from salmonellosis.Now, the pathogenesis, molecular, clinical, laboratory features, treatment and prognosis were described, in order to support the clues for pediatrician′s clinical practice. Key words: Mendelian susceptibility to mycobacterial disease; Interferon γ receptor 1/2; Signal transducer and activator of transcription 1