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Imilar to TREX1, mutations in SAMHD1 including biallelic null alleles as well as missense mutations have been associated with Aicardi-Goutieres syndrome. At least 16 different mutations in the SAMHD1 gene have been reported in patients with Aicardi-Goutieres syndrome [98?01]. These mutations result in loss-offunction of the SAMHD1 protein. However, how this protein dysfunction leads to immune syst
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Imilar to TREX1, mutations in SAMHD1 including biallelic null alleles as well as missense mutations have been associated with Aicardi-Goutieres syndrome. At least 16 different mutations in the SAMHD1 gene have been reported in patients with Aicardi-Goutieres syndrome [98?01]. These mutations result in loss-offunction of the SAMHD1 protein. However, how this protein dysfunction leads to immune syst
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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
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Sociated with SLE susceptibility have been shown to contribute to high IFN levels in human SLE patients [21?23]. These data support the idea that gain-of-function polymorphisms in the IFN pathway are a common pathogenic mechanism in SLE. Additionally, number novel genetic loci have been identified that have an effect on IFN- levels in SLE patients, supporting the genetic nature of the IFN dysregul
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Poptotic cells. Interestingly, complement also plays a role in T and B cell activation and complement deficiency may disrupt the balance of lymphoid cell activation. Deficiencies of the classical complement component pathway are likely to affect SLE pathogenesis by decreasing clearance of apoptotic cell debris and immune complexes (IC), resulting in increased self-antigen availability, and dysregu
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Poptotic cells. Interestingly, complement also plays a role in T and B cell activation and complement deficiency may disrupt the balance of lymphoid cell activation. Deficiencies of the classical complement component pathway are likely to affect SLE pathogenesis by decreasing clearance of apoptotic cell debris and immune complexes (IC), resulting in increased self-antigen availability, and dysregu
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T human IFN- is used as a treatment for MS. A study investigating whether IRF8 alleles were associated with type I IFN levels or serologic profiles in SLE and MS revealed that MS-associated allele downstream of IRF8 (rs17445836G) was associated with decreased activity of the type I IFN pathway in these two different autoimmune diseases and was associated with anti-dsDNA antibodies and increased IR
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Ance to the FAS-mediated apoptosis in these cells [69, 73, 74]. Other studies have observed that polymorphisms in FAS and FASL genes could alter their basal expression [75] and thus have been suggested to play important roles in pathogenesis of SLE [72, 74, 76] . 4.1.3. DNASE1/DNASE1L3--Deoxyribonuclease I (DNase I, encoded by DNASE1) is specific endonuclease essential during apoptosis. Decreased