الفهرس 
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Systemic lupus erythematosusOnly 14 pages are availabe for public view
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Abstract
Systemic lupus erythematosus (SLE) is an autoimmune disease with significant clinical heterogeneity and ethnic differences (Pons-Estel et al., 2010). Immunological dysfunction in SLE precedes the onset of clinical disease by years, making SLE a challenging disease (Arbuckle et al., 2003). Compared with adults, juvenile SLE is more active at time of diagnosis and over time. Children develop LN at a higher frequency and renal damage occurs more rapidly than adults (Brunner et al., 2008). The precise aetiology of SLE is still vague. Genetic predisposition, environmental and hormonal factors play important roles in its pathogenesis (Lau et al., 2006). A genetic contribution to SLE is well established (Deapen et al., 1992). Starting from 1970, genetic studies in various SLE populations have identified numerous susceptibility loci. However, the genetic variability identified so far, accounts for less than half of the SLE heritability(Ceccarelli et al., 2015). More than half of the genetic variants associated with SLE are linked to type I IFN production or signalling (Bengtsson et al., 2000, Bronson et al., 2012). Type I IFN is an important mediator of viral immunity (Isaacs and Lindenmann, 1957) and type I IFN levels including IFN-α are correlated with susceptibility and severity of SLE (Banchereau and Pascual, 2006). Interferon regulatory factor 5 (IRF5) is a member of a family of transcription factors that controls inflammatory responses and can modulate the expression of type I IFN genes (Honda et al., 2005). IRF5 is also involved in other signalling pathways including IgG switching in B cells, and macrophage polarization and apoptosis which may expand its function in SLE pathogenesis to further rules rather than dysregulated control of IFN expression (Lazzari and Jefferies, 2014). Interferon regulatory factor 5 gene is a 12kb gene, containing nine exons and located on human chromosome 7q32 (Barnes et al., 2001). IRF5 locus was first implicated in SLE in 2005 when the rs2004640 introduced a new donor splice site, suggesting that alternate exon1 splicing may occur in the context of this variant (Sigurdsson et al., 2005). Since then rs2004640 in SLE have been thoroughly studied in several ethnic groups (Demirci et al., 2007, Reddy et al., 2008, Qin et al., 2010) while rs2280714 and rs10954213 are less studied (Graham et al., 2007, Song et al., 2009). Only rs2004640 and rs10954213 have been studied once before in Arab patients with SLE from Tunisia (Fourati, 2012). To date few reports studied correlation between rs2004640 and LN and other SLE clinical manifestations (Qin et al., 2010, Eriksson et al., 2012) Contrary, rs2280714 and rs10954213 have not been studied before in relation to SLE clinical and laboratory parameters.