List of Autoinflammatory Diseases
Below, you’ll find a brief overview of a select subset of autoinflammatory diseases, the affected gene, proteins and pathways, and the main symptoms associated with each disorder. The Canadian Autoinflammatory Network thanks Dr. Erkan Demirkaya for providing this summary.
| Disease | Gene/Protein | Presenting Symptoms | Pathway(s) |
|---|---|---|---|
| FMF | MEFV/Pyrin | Fever, serositis, rash, SAA amyloidosis | IL-1β↑ |
| PAAND | MEFV/Pyrin | Fever, pyoderma, acne, arthralgia, myalgia | IL-1β↑ |
| FLKC, MSPC | NLRP1/NLRP1 | Hyperkeratotic ulcerative skin lesions on palms and soles | IL-1β↑ |
| CAPS | NLRP3/NLRP3 | Spectrum from cold-induced urticaria and fever to CNS inflammation and bone overgrowth | IL-1β↑ |
| Majeed Syndrome | LPIN2/LPIN2 | Dyserythropoietic anemia, osteomyelitis, neutrophilic dermatosis | IL-1β↑ |
| FCAS2 | NLRP12/NLRP12 | Cold-induced fever, rash, arthralgia, myalgia | NF-κB activity↑ |
| NLRC4-MAS | NLRC4/NLRC4 | Recurrent MAS, enterocolitis, cold-induced fever and urticaria, CNS inflammation | IL-1β↑/IL-18↑ |
| PAPA | PSTPIP1/PSTPIP1 | Pyoderma, pyogenic arthritis, severe cystic acne | IL-1β↑ |
| HIDS, MKD | MVK/MVK | Fever, gangrenosum, rash, lymphadenopathy, abdominal pain, vomiting | IL-1β↑ |
| PFIT | WDR1/WDR1 | Fever, immunodeficiency, thrombocytopenia | IL-18↑ |
| DIRA | IL1RN/IL-1RA | Pustular rash, osteomyelitis | IL-1↑ |
| DITRA | IL36RN/IL-36RA | Pustular psoriasis, fever | IL-36↑ |
| Il-10 deficiency | IL10/IL-10 and IL10RA,IL10RB/IL-10 receptor | Early-onset inflammatory bowel disease | Loss of function of IL-10; STAT3 phosphorylation↓ TNF↑ |
| Blau Sydrome | NOD2/NOD2 | Granulomatous arthritis, uveitis, rash, camptodactyly | NF-κB↑ |
| CAMPS, PSORS2 | CARD14 | Psoriasis, pityriasis rubra pilaris, pustular psoriasis | IL-17↑/IL-23↑ |
| HA20 | TNFAIP3/A20 | Fever, ulcers (oral and genital), ocular inflammation, arthritis | NF-κB↑; multiple cytokines |
| Otulipenia, ORAS | OTULIN/OTULIN | Fever, neutrophilic dermatosis, lipodystrophy, failure to thrive | NF-κB↑; multiple cytokines |
| LUBAC deficiency | RBCK1/HOIL-1 and RNF31/HOIP | Immunodeficiency, fever, amylopectinosis, lymphangiectasia | NF-κB↓/IL-6↑; hyper-responsiveness to IL-1 and TNF in PBMC |
| AGS | Multiple genes/proteins | CNS inflammation, brain calcifications | type I IFN↑ |
| PRAAS, CANDLE | Multiple proteasome genes/proteins | Fever, lipodystrophy, arthropathy, brain calcifications, rash | type I IFN↑ |
| SAVI | TMEM173/STING | Fever, vasculitis, interstitial lung disease | type I IFN↑ |
| TRAPS | TNFRSF1A/TNFR1 | Fever, serositis, rash, myalgia, orbital inflammation, SAA amyloidosis | MAPK↑; IL-1↑ and other cytokines |
| Vibratory urticaria | ADGRE2/ADGRE2 | Urticarial rash in response to mechanostimulation | Defect in ADGRE2-mediated inhibition |
| DADA2 | CECR1/ADA2 | Fever, lacunar strokes, livedo, vasculitis, immunodeficiency, anemia | TNF↑/IL-1↑ |
| APLAID | PLCG2/ PLCγ2 | Rash, arthralgia, ocular inflammation, interstitial lung disease | IL-1↑ and other cytokines |
| SIFD | TRNT1/TRNT1 | Sideroblastic anemia, B cell immunodeficiency, fevers, developmental delay | multiple cytokines |
| Behçet Syndrome | Multiple genes | systemic vasculitis, recurrent oral/ genital ulcers, uveitis | multiple cytokines |