Matches in SemOpenAlex for { <https://semopenalex.org/work/W1996005331> ?p ?o ?g. }
- W1996005331 endingPage "378" @default.
- W1996005331 startingPage "364" @default.
- W1996005331 abstract "The genetic dissection of various human infectious diseases has led to the definition of inborn errors of human STAT1 immunity of four types, including (i) autosomal recessive (AR) complete STAT1 deficiency, (ii) AR partial STAT1 deficiency, (iii) autosomal dominant (AD) STAT1 deficiency, and (iv) AD gain of STAT1 activity. The two types of AR STAT1 defect give rise to a broad infectious phenotype with susceptibility to intramacrophagic bacteria (mostly mycobacteria) and viruses (herpes viruses at least), due principally to the impairment of IFN-γ-mediated and IFN-α/β-mediated immunity, respectively. Clinical outcome depends on the extent to which the STAT1 defect decreases responsiveness to these cytokines. AD STAT1 deficiency selectively predisposes individuals to mycobacterial disease, owing to the impairment of IFN-γ-mediated immunity, as IFN-α/β-mediated immunity is maintained. Finally, AD gain of STAT1 activity is associated with autoimmunity, probably owing to an enhancement of IFN-α/β-mediated immunity. More surprisingly, it is also associated with chronic mucocutaneous candidiasis, through as yet undetermined mechanisms involving an inhibition of the development of IL-17-producing T cells. Thus, germline mutations in human STAT1 define four distinct clinical disorders. Various combinations of viral, mycobacterial and fungal infections are therefore allelic at the human STAT1 locus. These experiments of Nature neatly highlight the clinical and immunological impact of the human genetic dissection of infectious phenotypes." @default.
- W1996005331 created "2016-06-24" @default.
- W1996005331 creator A5030970846 @default.
- W1996005331 creator A5037124450 @default.
- W1996005331 creator A5047494606 @default.
- W1996005331 creator A5047928635 @default.
- W1996005331 creator A5062601012 @default.
- W1996005331 creator A5083070243 @default.
- W1996005331 creator A5090497008 @default.
- W1996005331 date "2012-08-01" @default.
- W1996005331 modified "2023-10-18" @default.
- W1996005331 title "Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes" @default.
- W1996005331 cites W103687069 @default.
- W1996005331 cites W1488142816 @default.
- W1996005331 cites W1509473864 @default.
- W1996005331 cites W1540487906 @default.
- W1996005331 cites W1581108390 @default.
- W1996005331 cites W1589212151 @default.
- W1996005331 cites W1821858011 @default.
- W1996005331 cites W1827723601 @default.
- W1996005331 cites W1890971615 @default.
- W1996005331 cites W1934796349 @default.
- W1996005331 cites W1964973658 @default.
- W1996005331 cites W1965206234 @default.
- W1996005331 cites W1967139098 @default.
- W1996005331 cites W1968683200 @default.
- W1996005331 cites W1969633526 @default.
- W1996005331 cites W1972527945 @default.
- W1996005331 cites W1973241546 @default.
- W1996005331 cites W1973309978 @default.
- W1996005331 cites W1980817114 @default.
- W1996005331 cites W1981038069 @default.
- W1996005331 cites W1983630074 @default.
- W1996005331 cites W1984229005 @default.
- W1996005331 cites W1986304462 @default.
- W1996005331 cites W1987303272 @default.
- W1996005331 cites W1988981784 @default.
- W1996005331 cites W1992443284 @default.
- W1996005331 cites W1993034428 @default.
- W1996005331 cites W1996959173 @default.
- W1996005331 cites W1998432741 @default.
- W1996005331 cites W1999706337 @default.
- W1996005331 cites W2013286665 @default.
- W1996005331 cites W2016415903 @default.
- W1996005331 cites W2018353716 @default.
- W1996005331 cites W2020183645 @default.
- W1996005331 cites W2022930484 @default.
- W1996005331 cites W2026614040 @default.
- W1996005331 cites W2026951628 @default.
- W1996005331 cites W2029275361 @default.
- W1996005331 cites W2033732585 @default.
- W1996005331 cites W2034453891 @default.
- W1996005331 cites W2035027025 @default.
- W1996005331 cites W2035031252 @default.
- W1996005331 cites W2037525819 @default.
- W1996005331 cites W2038521663 @default.
- W1996005331 cites W2040958622 @default.
- W1996005331 cites W2041111263 @default.
- W1996005331 cites W2043901802 @default.
- W1996005331 cites W2044532151 @default.
- W1996005331 cites W2046158839 @default.
- W1996005331 cites W2049234640 @default.
- W1996005331 cites W2049537492 @default.
- W1996005331 cites W2051018333 @default.
- W1996005331 cites W2052982889 @default.
- W1996005331 cites W2053341712 @default.
- W1996005331 cites W2053944590 @default.
- W1996005331 cites W2054596855 @default.
- W1996005331 cites W2056107229 @default.
- W1996005331 cites W2057877742 @default.
- W1996005331 cites W2058363464 @default.
- W1996005331 cites W2058538904 @default.
- W1996005331 cites W2059880041 @default.
- W1996005331 cites W2063285149 @default.
- W1996005331 cites W2063407488 @default.
- W1996005331 cites W2066806053 @default.
- W1996005331 cites W2067911388 @default.
- W1996005331 cites W2067928547 @default.
- W1996005331 cites W2068577743 @default.
- W1996005331 cites W2074123822 @default.
- W1996005331 cites W2074390096 @default.
- W1996005331 cites W2074407690 @default.
- W1996005331 cites W2079357798 @default.
- W1996005331 cites W2081530462 @default.
- W1996005331 cites W2084409051 @default.
- W1996005331 cites W2085060088 @default.
- W1996005331 cites W2085600062 @default.
- W1996005331 cites W2085935547 @default.
- W1996005331 cites W2086414517 @default.
- W1996005331 cites W2086831075 @default.
- W1996005331 cites W2099072360 @default.
- W1996005331 cites W2099132542 @default.
- W1996005331 cites W2099595302 @default.
- W1996005331 cites W2100910315 @default.
- W1996005331 cites W2103807332 @default.
- W1996005331 cites W2104252324 @default.
- W1996005331 cites W2105978586 @default.
- W1996005331 cites W2106756221 @default.