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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