Periodic fever syndromes and other inherited autoinflammatory diseases
| CONDITION | MODE OF INHERITANCE |
|---|---|
| Periodic fever syndrome without known inheritance | |
| • PFAPA syndrome | None |
| Periodic fever syndrome with known inheritance | |
| • FMF | AR |
| • Cryopyrin-associated periodic syndromes | |
| -Familial cold autoinflammatory syndrome | AD |
| -Muckle-Wells syndrome | AD |
| -Neonatal onset multisystem inflammatory disease | AD or de novo |
| • Mevalonate kinase deficiency (hyper-IgD with periodic fever syndrome) | AR |
| • Familial cold autoinflammatory syndrome 2 | AD |
| • TRAPS | AD |
| • Cyclic hematopoiesis or cyclic neutropenia | AD or de novo |
| Diseases with pyogenic lesions | |
| • Deficiency of interleukin-1 receptor antagonist | AR |
| • Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome | AD |
| Diseases with granulomatous lesions | |
| • Blau syndrome | AD |
| Diseases with psoriasis | |
| • Deficiency of interleukin-36 receptor antagonist | AR |
| • CARD14-mediated psoriasis | AD |
| Interferonopathies; diseases with panniculitis-induced lipoatrophy | |
| • CANDLE syndrome | AR |
| • Joint contractures, muscle atrophy, and panniculitis-induced lipodystrophy syndrome | AR |
| • Nakajo-Nishimura syndrome | AR |
| • Aicardi-Goutières syndrome | AR |
| Others | |
| • PLCγ2-associated antibody deficiency and immune dysregulation syndrome | AD |
| Polygenic autoinflammatory diseases* | |
| • Behçet disease | Unknown |
| • Chronic recurrent multifocal osteomyelitis | Unknown |
| • Gout | Unknown |
| • Systemic juvenile idiopathic arthritis | Unknown |
AD—autosomal dominant; AR—autosomal recessive; CANDLE—chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; CARD14—caspase recruitment domain family member 14; FMF—familial Mediterranean fever; hyper-IgD—hyperimmunoglobulin D; PFAPA—periodic fever, aphthous stomatitis, pharyngitis, and adenitis; PLCγ2—phospholipase Cγ2; TRAPS—tumor necrosis factor receptor–associated periodic syndrome.
↵* Many more polygenic autoinflammatory diseases continue to be described.