Table 2.

Genetic variants and pathways affected

Pathway	Gene	Disease associated	Reference
IC clearance	C1S	SLE-like disease, aHUS, primary angioedema	[30]
	C3	SLE-like disease	[30]
	PEPD	SLE-like disease	[23]
Immune cell signalling	BANK1	AITD, CLL, SSc, RA, SLE	[38]
	PTPN22	RA, T1D, CD, JIA, HT, SLE	[15]
	TNFSF4	SSc, SLE	[37]
NF-κB signalling	TNFAIP3	SS, RA, SSc, SLE, A20 haploinsufficiency	[36]
Nucleic acid sensing and processing	DNASE1	AGS, ChLE	[6]
	RNASEH2A	AGS, ChLE	[13]
	RNASEH2B	AGS, ChLE	[13]
	RNASEH2C	AGS, ChLE	[13]
	SAMHD1	AGS, ChLE	[6]
	TREX1	AGS, ChLE	[6]
TLR/IFN signalling	IRF7	SLE	[28]

aHUS: atypical haemolytic uremic syndrome; BANK1: B cell scaffold protein with ankyrin repeats 1; C1S: complement C1S; C3: complement C3; ChLE: chilblain lupus erythematosus; DNASE1: deoxyribonuclease 1; HT: Hashimoto thyroiditis; IFN: (type 1) interferon; IC: immune complex; IRF7: interferon regulatory factor 7; NF-κB: nuclear factor κB; PEPD: peptidase D; PTPN22: protein tyrosine phosphatase non-receptor Type 22; RNASEH2A: ribonuclease H2 subunit A; RNASEH2B: ribonuclease H2 subunit B; RNASEH2C: ribonuclease H2 subunit C; SAMHD1: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1; T1D: type 1 diabetes; TLR: Toll-like receptor; TNFAIP3: TNF-α induced protein 3; TNFSF4: TNF superfamily member 4; TREX1: three prime repair exonuclease 1.