Table 1. Molecular features and molecular causes of familial autoinflammatory disorders.
Diseases are listed in order of their discovery. Abbreviations and Definitions: Blau Syndrome: Granulomatous synovitis, with Uveitis and Cranial Neuropathies (also known as familial juvenile systemic arthrocutaneouveal granulomatosis); PAPA syndrome: Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne; DIRA: Deficiency of IL-1 Receptor Antagonist; DITRA: Deficiency of IL-36R Receptor Antagonistm; CANDLE: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. JMP syndrome: Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy
| Disease | Gene | Protein | Key References | Inheritance pattern | Clinical Features |
|---|---|---|---|---|---|
| Familial Mediterranean Fever (FMF) | MEFV | Pyrin | 63 | autosomal recessive or Gene-dosage dependent autosomal dominant | Periodic Fevers (3-7days) serositis, arthritis |
| Tumor Necrosis Factor Associated Periodic Syndrome (TRAPS) | TNFRSF 1A | Tumor necrosis factor receptor 1 | 53 | autosomal dominant with dependence on WT allele | Periodic Fevers (1-6 weeks), serositis, rash, episcleritis |
| Hyper IgD Syndrome | MVK | Mevalonate kinase | 97 | autosomal recessive | Periodic Fevers (3-7 days), non-destructive arthritis, lymphadenopathy, vasculitic skin lesions |
| Cryopyrin-Associated Periodic Syndromes FCAS/MWS/NOMID | NLRP3 | NLRP3, Cis1 | 98,99 | autosomal dominant | Cold-induced autoinflammation>Cochl ear Inflammation> fevers & Sterile Meningitis, Bone lesion |
| Blau syndrome | NOD2 | Nod2 | 100,101 | autosomal dominant | Granulomatous Dermatitis, Uveitis. Arthritis |
| PAPA syndrome | CD2BP1 | Pstpip1 | 102 | autosomal dominant | Pyogenic arthritis, pyoderma granolosum, acne |
| DIRA | IL1RN | IL-1R antagonist | 103 | autosomal recessive | Fevers, Pustular skin rash, osteolytic bone lesions |
| DITRA (Deficiency of IL-36R antagonist) | IL36RN | IL-36R antagonist | 104 | autosomal recessive | Generalized pustular psoriasis, |
| Familial Psoriasis (PSORS2) and CAMPS (CARD14 Mediated Pustular Psoriasis) | CARD14 | caspase recruitment domain family, member 14 | 17,18 | ||
| CANDLE/ Nakajo-Nishimura syndrome/JMP syndrome | PSMB8 | b5i immunoprot easome subunit | 19-22 | autosomal recessive | Lipodystrophy associated inflammatory disease |