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Table 2 Monogenic forms of SLE

From: Type I interferonopathies in pediatric rheumatology

Disease Gene Protein function Inheritance Clinical presentation
Monogenic SLE TREX1 3′-5′ DNA exonuclease AD (AR in few cases) SLE
C1q C1qA Central pattern-recognition molecule in the classical pathway of the complement system AR SLE, membranous proliferative GN, arthritis, bacterial infections
C1qB
C1qC
C1r Components of the C1 complex in the classical pathway of the complement system AR SLE, RA-like arthritis, sinopulmunary infections
C1s SLE, Hashimoto’s thyroiditis, autoimmune hepatitis
C2 Component of the classical pathway of the complement system AR SLE in a minority of affected individual. Arthritis, malar rash, discoid rash.
C3 Major complement component, involved in all three pathways of activation AR Upper and lower respiratory tract infection, SLE in a minority of affected individual.
C4A Component of the classical pathway of the complement system AR SLE, type 1 diabetes mellitus, glomerulonephritis
Dnase1 Endonuclease present in tissues, serum and body fluids AD SLE, Sjögren syndrome, antinucleosomal autoantibodies
DNase1L3 Endonuclease, homologue to Dnase1 AR Pediatric onset SLE, lupus nephritis, hypocomplementemic urticarial vasculitis syndrome HUVS.
ACP5 Lysosomal phosphatase activity AR Skeletal dysplasia (SPENCD), SLE, Sjögren syndrome, Raynaud
PRKCD Serine/threonine kinase implicated in the control of cell proliferation and apoptosis AR Pediatric onset SLE, lupus nephritis
IFIH1 Cytosolic receptor for dsRNA AD SLE with IgA deficiency, mild lower limb spasticity
Chilblain lupus TREX-1 3′-5′ DNA exonuclease AD Chilblain lesions, skin ulcers, loss of ear cartilage
SAMHD1 Restricts the availability of cytosolic deoxynucleotides AR and AD Chilblain lesions, photosensitivity
  1. AD autosomal dominant, AR autosomal recessive, GN glomerulonephritis, ACP5 Acid Phosphatase 5, Tartrate Resistant, HUVS Hypocomplementemic urticarial vasculitis syndrome, IFIH1 IFN-induced helicase C domain-containing protein 1 (also known as MDA5), PRKCD Protein Kinase C Delta, SAMHD1 deoxynucleoside triphosphate triphosphohydrolase SAM domain and HD domain 1, TREX1 DNA 3ʹ repair exonuclease 1