A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases
Tài liệu tham khảo
Casanova, 2002, Genetic dissection of immunity to mycobacteria: the human model, Annu. Rev. Immunol., 20, 581, 10.1146/annurev.immunol.20.081501.125851
Jouanguy, 1996, Interferon-gamma-receptor deficiency in an infant with fetal bacille Calmette-Guerin infection, N. Engl. J. Med., 335, 1956, 10.1056/NEJM199612263352604
Dorman, 1998, Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection, J. Clin. Invest., 101, 2364, 10.1172/JCI2901
Filipe-Santos, 2006, X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production, J. Exp. Med., 203, 1745, 10.1084/jem.20060085
Altare, 1998, Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency, Science, 280, 1432, 10.1126/science.280.5368.1432
Altare, 1998, Inherited interleukin 12 deficiency in a child with bacille-Calmette-Guerin and Salmonella enteritidis disseminated infection, J. Clin. Invest., 102, 2035, 10.1172/JCI4950
Dupuis, 2001, Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation, Science, 293, 300, 10.1126/science.1061154
Bustamante, 2011, Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease, Nat. Immunol., 12, 213, 10.1038/ni.1992
Hambelton, 2011, IRF8 mutations and human dendritic-cell immunodeficiency, N. Engl. J. Med., 365, 127, 10.1056/NEJMoa1100066
Bogunovic, 2012, Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency, Science, 337, 1684, 10.1126/science.1224026
Chapgiar, 2006, Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease, PLoS Genet., 2, 1193
Tsumura, 2012, Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease, Hum. Mutat., 33, 1377, 10.1002/humu.22113
Hirata, 2013, Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis, Haematologica, 98, 1641, 10.3324/haematol.2013.083741
Sampaio, 2012, A novel STAT1 mutation associated with disseminated mycobacterial disease, J. Clin. Immunol., 32, 681, 10.1007/s10875-012-9659-2
Yamada, 2012, Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells, Gene, 497, 110, 10.1016/j.gene.2012.01.019
Takezaki, 2012, Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain, J. Immunol., 189, 1521, 10.4049/jimmunol.1200926
Okura, 2015, Monocyte/macrophage-specific NADPH oxidase contributes to antimicrobial host defense in X-CGD, J. Clin. Immunol., 35, 158, 10.1007/s10875-015-0138-4
Liu, 2011, Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis, J. Exp. Med., 208, 1635, 10.1084/jem.20110958
Schreiber, 1989, Rapid detection of octamer binding proteins with ‘mini-extracts’, prepared from a small number of cells, Nucleic Acids Res., 17, 6419, 10.1093/nar/17.15.6419
Schwarz, 2014, Mutation Taster2: mutation prediction for the deep-sequencing age, Nat. Methods, 11, 361, 10.1038/nmeth.2890
Wu, 2015, Host susceptibility to non-tuberculous mycobacterial infections, Lancet Infect. Dis., 15, 968, 10.1016/S1473-3099(15)00089-4
Yamazaki, 2014, Two novel gain-of function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody, J. Immunol., 193, 4880, 10.4049/jimmunol.1401467
Toubiana, 2016, Heterozyous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype, Blood, 127, 3154, 10.1182/blood-2015-11-679902
Dotta, 2016, Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease, Clin. Immunol., 164, 1, 10.1016/j.clim.2015.12.010