Table 1.
Monogenic systemic autoinflammatory disorders
| Disease acronym | Gene(s) | Disease name | Mode of inheritance | Disease mechanism | OMIM numbera |
|---|---|---|---|---|---|
| ADAM17 deficiency | ADAM17 | ADAM17 deficiency | AR | LoF | 614328 |
| AGS (Type 1-7) | ADAR, DNASE2, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 | Aicardi–Goutières syndrome | AR (type 2-6) or AD/AR (type 1) or AD (type7) | LoF (type 1-6, DNase II deficiency), GoF (type 7) | 615010, 615846, 610333, 610181, 610329, 612952, 225750 |
| AIADK | NLRP1 | Autoinflammation with arthritis and dyskeratosis | AD/AR | GoF | 617388 |
| AIFEC/NLRC4-MAS/FCAS4 | NLRC4 | Autoinflammation with infantile enterocolitis/NLRC4 macrophage activation syndrome/ familial cold autoinflammatory syndrome 4 | AD | GoF | 616115, 616050 |
| AILJK | COPA | Autoimmune interstitial lung, joint, and kidney disease | AD | Dominant negative | 616414 |
| Blau syndrome | NOD2 | Blau syndrome/early-onset sarcoidosis | AD | GoF | 186580 |
| CAPS | NLRP3 | Cryopyrin-associated periodic syndromes (FCAS, MWS, NOMID/CINCA) | AD | GoF | 120100, 191900, 607115 |
| CAMPS/PSORS2 | CARD14 | CARD14-mediated psoriasis | AD | GoF | 173200, 602723 |
| Cherubism | SH3BP2 | Cherubism | AD | GoF/dominant negative | 118400 |
| DADA2 | ADA2 | Deficiency of adenosine deaminase 2 | AR | LoF | 615688 |
| DIRA | IL1RN | Deficiency of IL-1-receptor antagonist | AR | LoF | 612852 |
| DITRA | IL36RN | Deficiency of IL-36-receptor antagonist | AR | LoF | 614204 |
| EOIBD/IL-10 deficiency | IL10, IL10RA, IL10RB | Early-onset inflammatory bowel disease | AR | LoF | 613148 |
| FCAS2 | NLRP12 | Familial cold autoinflammatory syndrome 2 | AD | LoF | 611762 |
| FMF | MEFV | Familial Mediterranean fever | AR | GoF | 249100 |
| PAAD/PAAND | MEFV | Pyrin-associated dominant diseases/pyrin-associated autoinflammation with neutrophilic dermatosis | AD | GoF | 134610 |
| AIADK/FKLC/MSPC | NLRP1 | Familial keratosis lichenoides chronica/multiple self-healing palmoplantar carcinoma | AD | GoF | 617388, 615225 |
| H syndrome | SLC29A3 | Histiocytosis lymph adenopathy plus syndrome | AR | LoF | 602782 |
| HA20 | TNFAIP3 | Haploinsufficiency of A20 | AR | LoF | 616744 |
| HIDS/MKD | MVK | Mevalonate kinase deficiency/hyperimmunoglobulinaemia D syndrome | AR | LoF | 260920, 610377 |
| HOIL1 deficiency | RBCK1 (HOIL1) | HOIL1 deficiency | AR | LoF | 615895 |
| HOIP deficiency | RNF31 (HOIP) | HOIP deficiency | AR | LoF | NA |
| LACC1-associted diseases | LACC1 | LACC1-associated systemic JIA and early-onset IBD | AR | LoF | NA |
| LPIN2 deficiency/Majeed | LPIN2 | Majeed syndrome | AR | LoF | 609628 |
| OTULIN deficiency/ORAS | OTULIN | OTULIN-associated autoinflammatory syndrome | AR | LoF | 617099 |
| PAPA | PSTPIP1 | Pyogenic arthritis, pyoderma gangrenosum and acne syndrome | AD | Not known | 604416 |
| PFIT | WDR1 | Periodic fever, immunodeficiency, and thrombocytopenia | AR | LoF | NA |
| PLAID/FCAS3/APLAID | PLCG2 | Familial cold autoinflammatory syndrome 3/autoinflammation, antibody deficiency, and immune dysregulation syndrome | AD | GoF | 614878, 614468 |
| PRAAS/CANDLE | PSMB8, PSMB4, PSMB9, PSMA3 | Proteasome-associated autoinflammatory syndromes/chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature | AR | LoF | 256040, 617591 |
| Pustular psoriasis/PSOR15 | AP1S3 | Generalized pustular psoriasis | AD | LoF | 616106 |
| SAVI | TMEM173 | STING-associated vasculopathy with onset in infancy | AD | GoF | 615934 |
| SIFD | TRNT1 | Sideroblastic anaemia with immunodeficiency, fevers and developmental delay | AR | LoF | 616084 |
| SPENCD | ACP5 | Spondyloenchondrodysplasia with immune dysregulation | AR | LoF | 607944 |
| TRAPS | TNFRSF1A | TNFR1-associated periodic syndrome | AD | Not known | 142680 |
| TRAPS11 | TNFRSF11 | TNFR11-associted periodic syndrome | AD | Not known | 603499 |
| USP18 deficiency | USP18 | USP18 deficiency | AR | LoF | 617397 |
No OMIM numbers available for DNASE2-associated AGS, HOIP deficiency, LACC1-associted diseases and PFIT. AD: autosomal dominant; AR: autosomal recessive; CARD14: caspase recruitment domain-containing protein 14; CINCA: chronic infantile neurological cutaneous and articular syndrome; FCAS: familial cold autoinflammatory syndrome; GoF: gain of function; HOIL1: heme-oxidized IRP2 ubiquitin ligase 1; HOIP: HOIL1-interacting protein; LACC1: laccase domain containing 1; LoF: loss of function; MWS: Muckle–Wells syndrome; NA: not applicable; NLRC4: NLR family CARD domain-containing protein 4; NOMID: neonatal-onset multisystemic inflammatory disease; OMIM: Online Mendelian Inheritance in Man (https://www.omim.org/); OTULIN: OTU deubiquitinase with linear linkage specificity; PLCγ2: phospholipase C-2; STING: stimulator of interferon genes; TNFR: tumour necrosis factor receptor; USP18: ubiquitin specific peptidase 18.