Table 2 Main features of mendelian SLE
From: Monogenic forms of systemic lupus erythematosus: new insights into SLE pathogenesis
Gene mutated/protein | Chromosome | Inheritance | Clinical features |
|---|---|---|---|
TREX1/TREX1 | 3p21 | AD | Chilblain lupus, intracerebral calcifications |
DNAse I/ DNase I | 16p13 | AD | Systemic lupus, Sjögren syndrome,high levels of antinucleosomal antibodies |
DNAse IL3/ DNase1L3 | 3p14 | AR | Early-onset SLE, antinuclear antibodies, anti-dsDNA, ANCA |
AGS5/SAMHD1 | 20q11 | AD | Chilblain lupus, intracerebral calcifications, mental retardation |
ACP5/TRAP | 19p13 | AR | Growth retardation, spondyloenchondrodysplasia, SLE, Sjögren, vitiligo, myositis, Raynaud, ANA, anti-dsDNA |