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Table 3 Single gene causes of lupus or lupus-like syndrome in Humans

From: Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

MechanismGene SymbolProteinMOIPhenotypeRefHuman Disease [OMIM#]
ComplementC1QAC1QARSLE in 88%
Recurrent infections
[26]120550
C1QBAR[27]120570
C1QCAR[28]120575
C1RC1RARSLE in 65%
Sjogren syndrome
Recurrent infections
[29]613785
C1SC1SAR[30]120580
C2C2ARSLE in 10%
Recurrent infections
[31]613927
C3C3ARSLE in a minority of affected[32]120700
C4C4ARSLE in 75%
Recurrent infections
[33]142974
Type 1 interferonTMEM173STINGADSTING associated vasculopathy with onset in infancy[34]612374
SAMHD1SAMHD1ARMild Aicardi–Goutie` res syndrome
Mouth ulcers
Deforming arthropathy
Cerebral vasculopathy
[35]606754
ADAR1ADAR1AR/ADAicardi–Goutie’res syndrome Bilateral striatal necrosis[36]146920
IFIH1IFIH1ADClassical or mild Aicardi–Goutie’res syndrome
Singleton–Merton syndrome
SLE
[36]606951
RNASEH2BRNASEH2BARAicardi–Goutie’res syndrome[36]610326
APC5APC5ARSLE
Sjogren syndrome
Autoimmune cytopenias
Raynaud phenomenon
Recurrent infections
Spondyloenchondrodysplasia
[37]606948
TREX1TREX1ARAicardi–Goutie’res syndrome[36]606609
Nucleic acids degradationDNASE1DNASE1ADSLE
Sjogren syndrome
[38]125505
DNASE1L3DNASE1L3ARSLE
Hypocomplementemic urticarial vasculitis syndrome
[39]602244
TREX1TREX1ADAicardi–Goutie’res syndrome[40]606609
RNASEH2ARNASEH2AARAicardi–Goutie’res syndrome[41]606034
RAS/MAPKSHOC2SHOC2ADNoonan syndrome with loose
anagen hair
SLE
[42]602775
KRASKRASADNoonan syndrome
SLE
[42]190070
PTPN11PTPN11ADNoonan syndrome
SLE (polyarthritis, photosensitivity, leukopenia and lymphopenia)
Hashimoto thyroiditis
[42]176876
ProteasomePSMA3PSMA3ADCANDLE (chronic atypical
neutrophilic dermatosis with
lipodystrophy and elevated
temperature)
[43]176843
PSMB4PSMB4AD[43]602177
PSMB8PSMB8AD[44]177046
ApoptosisTNFRSF6FASADALPS[45]134637
FASLGFASLADALPS
SLE with lymphoadenopathies
[8]134638
TolerancePRKCDPRKCDARSLE (Malar rash & nephritis 100%)[46]176977
RAG2RAG2AR/ADSCID
Omenn syndrome
SLE
[47]179616
Phagocytes oxidase systemCYBBNADPH oxidase 2X-linkedChronic granulomatous disease Cutaneous lupus erythematosus SLE[48]300481
DNA repairNEIL3NEIL3ARAutoimmune cytopenias
Chronic diarrhea
Recurrent Infections
[49]608934
AKT/PKBPTENPTENADSLE
Malignancy
Bannayan–Riley–Ruvalcaba
syndrome
Cowden syndrome
[50]601728
Collagen degradationPEPDPEPDARProlidase deficiency
Leg ulcers
SLE
[51]613230
Amino acid transporterSLC7A7SLC7A7 Lysinuric protein intolerance
SLE
[52]603593
Carbohydrate catabolismMAN2B1Lysosomal α mannosidaseARAlpha-mannosidosis
SLE
[16]609458