title: Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.
abstract: In the last 6 years, considerable advances have been made in the molecular analysis of a rare clinical syndrome: Mendelian susceptibility to mycobacterial disease (MSMD). Infection with poorly virulent environmental non-tuberculous mycobacteria (NTM) or vaccination with bacillus Calmette-Guerin (BCG) may cause disseminating and even fatal disease in individuals suffering from this syndrome. Mutations in five genes (IFNGR1, IFNGR2, STAT1, IL12B and IL12RB1) have been shown to be responsible for MSMD and further allelic heterogeneity accounts for the existence of nine distinct inherited disorders. All of these disorders are caused by impaired IFNgamma-mediated immunity. These results have important medical and biological implications. In this report, we update the disease-causing mutations reported in the literature.
authors: Laboratory of Human Genetics of Infectious Diseases, Necker Medical School, 156 rue de Vaugirard, 75015 Paris, France.
authors: R
authors: R
authors: Döffinger
authors: S
authors: S
authors: Dupuis
authors: C
authors: C
authors: Picard
authors: C
authors: C
authors: Fieschi
authors: J
authors: J
authors: Feinberg
authors: G
authors: G
authors: Barcenas-Morales
authors: J-L
authors: JL
authors: Casanova
mesh_terms: D000328:Adult; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007109:Immunity; D007371:Interferon-gamma / Q000502:physiology*; D018664:Interleukin-12 / Q000502:physiology*; D053762:Interleukin-12 Subunit p40; D007378:Interleukins / Q000235:genetics; D009154:Mutation; D009164:Mycobacterium Infections / Q000235:genetics* / Q000276:immunology; D017471:Receptors, Interferon / Q000235:genetics; D018123:Receptors, Interleukin / Q000235:genetics; D053707:Receptors, Interleukin-12; D050794:STAT1 Transcription Factor; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics; D000096743:Interferon gamma Receptor
chemical_list: D004268:DNA-Binding Proteins; D007371:Interferon-gamma; D018664:Interleukin-12; D053762:Interleukin-12 Subunit p40; D007378:Interleukins; D017471:Receptors, Interferon; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12; D050794:STAT1 Transcription Factor; D015534:Trans-Activators; D000096743:Interferon gamma Receptor; C500879:IL12B protein, human; C508438:IL12RB1 protein, human; C494079:STAT1 protein, human