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Table 1 (abstract O16). See text for description

From: Proceedings of the 28th European Paediatric Rheumatology Congress (PReS 2022)

Pathway

Gene

Disease associated

IC clearance

C1S

SLE-like disease, aHUS, primary angioedema

C3

SLE-like disease

PEPD

SLE-like disease

Immune cell signalling

BANK1

AITD, CLL, SSc, RA, SLE

PTPN22

RA, T1D, CD, JIA, HT, SLE

TNFSF4

SSc, SLE

NFκB signalling

TNFAIP3

SS, RA, SSc, SLE, A20 haploinsufficiency

Nucleic acid sensing and processing

DNASE1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1

AGS, ChLE

TLR/IFN signalling

IRF7

SLE