Table 1.
Clinical classification of inherited and multi-factorial autoinflammatory diseases (AID).
| Inherited AID (gene, transmission) | Multi-factorial AID | |
|---|---|---|
| CLINICAL PRESENTATION | ||
| Recurrent episodes of inflammation | FMF (MEFV, AR) TRAPS (TNFRSF1A, AD) MVK (MVK, AR) | PFAPA |
| Recurrent idiopathic pericarditis | ||
| Mollaret syndrome (recurrent meningitis) | ||
| Systemic inflammation with urticarial rash | CINCA/NOMID (NLRP3, AD) Muckle–Wells/FCAS (NLRP3, AD) FCAS2 (NLRP12, AD) | SoJIA |
| Adult onset Still disease | ||
| Schnitzler’s syndrome | ||
| Delayed pressure urticaria | ||
| Sterile inflammation of skin/bone/joints | PAPA (CD2BP1, AD) | CRMO |
| DIRA (IL1RN, AR) | SAPHO | |
| DITRA (IL36RN, AR) | Gout and pseudogout | |
| Majeed syndrome (LPIN2, AR) | HLA-B27 spondyloarthropathy | |
| CAMPS (CARD14, AD) | Reactive arthritis | |
| Blau’s syndrome (CARD15, AD) | Sweet syndrome | |
| Generalized pustular psoriasis | ||
| Hallopeau acrodermatitis | ||
| Panniculitis/lipodystrophy | Nakajo–Nishimura (PSMB8, AR) | Neutrophilic panniculitis |
| JMP (PSMB8, AR) | Erythema nodosum and panniculitis | |
| CANDLE syndrome (PSMB8, AR) | ||
| Inflammatory bowel disease | Early-onset inflammatory bowel disease (IL10, IL10RA, IL10RB) | Crohn’s disease |
| Hemophagocytic lymphohistiocytosis | FHL1 (Unknown) | SoJIA-associated MAS |
| FHL2 (PFR1/perforin 1, AR) | Infection-associated MAS | |
| FHL3 (UNC13D/Munc 13-4, AR) | ||
| FHL4 (STX11/syntaxin 11, AR) | ||
| FHL5 (STXB2/syntaxin binding protein, AR) | ||
FMF, familial Mediterranean fever; FCAS, familiar cold autoinflammatory syndrome; MWS, Muckle–Wells syndrome; TRAPS, TNF-receptos associated periodic syndrome; MVK, mevalonate kinase deficiency; CINCA, chronic infantile neurological cutaneous and articular; PAPA, pyogenic sterile arthritis, pyoderma gangrenosum, and acne; JMP, joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy; CANDLE, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; DIRA, deficiency of the IL-1 receptor antagonist; DITRA, deficiency of IL-36 receptor antagonist; CAMPS, CARD14-mediated pustular psoriasis; FHL, familial hemophagocytic lymphohistiocytosis; MAS, macrophage activation syndrome; AR, autosomal recessive; AD, autosomal dominant.