title: Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.
abstract: Understanding molecular immunity against mycobacterial infection is critical for the development of effective strategies to control tuberculosis (TB), which is a major health issue in the developing world. Host immunogenetic studies represent an indispensable approach to understand the molecular mechanisms against mycobacterial infection. A superb paradigm is the identification of rare mutations causing Mendelian susceptibility to mycobacterial diseases (MSMD). Mutations in the interferon-gamma (IFN-γ) receptor genes are highly specific (although not exclusive) for mycobacterial infection. Only dominant negative mutations of STAT1 have specific susceptibility to mycobacterial infection. Mutations in the interleukin-12 (IL-12) signaling genes have phenotypes with non-specificity. Current studies highlight a complex molecular network in antimycobacterial immunity, centered on IFN-γ signaling.
authors.affiliation: University of Texas Health Science Center at Houston, School of Public Health, Brownsville Campus, 80 Fort Brown, SPH Bldg, Brownsville, Texas 78520, USA. Huiqi.Qu@uth.tmc.edu
authors.forename: Hui-Qi
authors.initials: HQ
authors.lastname: Qu
authors.forename: Susan P
authors.initials: SP
authors.lastname: Fisher-Hoch
authors.forename: Joseph B
authors.initials: JB
authors.lastname: McCormick
mesh_terms: D020022:Genetic Predisposition to Disease / Q000235:genetics*; D007109:Immunity / Q000235:genetics*; D007371:Interferon-gamma / Q000235:genetics; D018664:Interleukin-12 / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009161:Mycobacterium / Q000276:immunology* / Q000472:pathogenicity; D009164:Mycobacterium Infections / Q000235:genetics / Q000276:immunology* / Q000382:microbiology; D017471:Receptors, Interferon / Q000235:genetics; D050794:STAT1 Transcription Factor / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics; D014376:Tuberculosis / Q000235:genetics / Q000276:immunology* / Q000382:microbiology / Q000517:prevention & control; D000096743:Interferon gamma Receptor
chemical_list: D007371:Interferon-gamma; D018664:Interleukin-12; D017471:Receptors, Interferon; D050794:STAT1 Transcription Factor; D000096743:Interferon gamma Receptor; C494079:STAT1 protein, human