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Quitinmodifying enzyme A20, a critical regulator of NF-B activity downstream of tumor necrosis factor alpha (TNF), TLRs, and interleukin 1 receptor [106]. TNFAIP3 limits inflammatory signals by diminishing NF-B signaling. Variants near TNFAIP3 have been associated with susceptibility to multiple polygenic autoimmune disorders including SLE, rheumatoid arthritis, and others [107]. Presumably these
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Quitinmodifying enzyme A20, a critical regulator of NF-B activity downstream of tumor necrosis factor alpha (TNF), TLRs, and interleukin 1 receptor [106]. TNFAIP3 limits inflammatory signals by diminishing NF-B signaling. Variants near TNFAIP3 have been associated with susceptibility to multiple polygenic autoimmune disorders including SLE, rheumatoid arthritis, and others [107]. Presumably these
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Important role in downstream responses to type I IFN and other cytokines. Functionally, activation and phosphorylation of STAT4 is induced by IL-12, IL-23, and IFN- which then promotes Th1 as well as Th17 responses [53]. Both candidate gene association studies and multiple GWAS studies using populations from European or Asian ancestry have demonstrated a robust association between SLE and STAT4 [1
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Of evidence indicate that abnormalities in the apoptosis (programmed cell death) contribute to the development of SLE, as the elimination of autoreactive T or B cells is impaired in this disease [67]. In addition, it appears that increased lymphocyte apoptosis and delayed clearance of phagocyte-mediated apoptotic cells as evident in SLE patients could contribute to B-cell hyperactivity and subsequ
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Tinucleosomal antibodies were reported with a mutation in exon 2 of DNAse type 1 [79], however this mutation has not been confirmed in other patient populations. Recently, study of seven consanguineous families with multiple SLE affected children by linkage analysis and exome sequencing identified loss-of-function mutations in DNASE1L3 as a monogenic cause of an SLE-like syndrome [80]. A strict Me
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Of evidence indicate that abnormalities in the apoptosis (programmed cell death) contribute to the development of SLE, as the elimination of autoreactive T or B cells is impaired in this disease [67]. In addition, it appears that increased lymphocyte apoptosis and delayed clearance of phagocyte-mediated apoptotic cells as evident in SLE patients could contribute to B-cell hyperactivity and subsequ
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Hese DNASE mutations facilitate an SLE-like phenotype via inappropriate accumulation of DNA which can then become a neo-antigen and form inflammatory immune complexes with anti-dsDNA antibodies. 4.1.4. PRKCD--Recently, in another study on consanguineous family with three siblings affected with SLE was reported in which the affected individuals all had homozygous inactivating mutations in PRKCD gen
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E primary complement defects such as complete deficiency of the early components of classical complement pathway genes (C1q, C1r/s, C2, C4A and C4B) are strongly associated with increased susceptibility to SLE [61?64]. The occurrence of a lupus-like syndrome or SLE has been demonstrated in 90 of homozygous C1q deficient cases, in more than 50 of cases with C1s/C1r deficiencies, in 10 to 30 of C