Therefore, the aim of the present study was to exhaustively evaluate these genetic variants of DNASEI that might reduce or abolish the activity of the enzyme, and thus act as potentially pathogenetic variants conferring a genetic predisposition to autoimmunity; we investigated the effect of such genetic variants on the DNase I activity by expression analysis of the DNase I isoform derived from each of them, including missense and nonsense SNPs, and indel (inframe) variants. The gene discussed is DNASE1; the disease is Autoimmunity.