Table 1.
Classification of the monogenic autoinflammatory syndromes.
| Inheritance | Gene | Chromosome | Mutated protein | |
|---|---|---|---|---|
| Monogenic periodic fevers | ||||
| Familial Mediterranean fever (FMF) | AR | MEFV | 16p13.3 | Pyrin/marenostrin |
| Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) | AD | TNFRSF1A | 12p13 | TNFRSF1A |
| Mevalonate kinase deficiency (MKD) | AR | MVK | 12q24 | Mevalonate kinase |
|
| ||||
| Cryopyrin-associated periodic syndromes | ||||
| Familial cold autoinflammatory syndrome (FCAS) | AD | NLRP3/CIAS1 | 1q44 | Cryopyrin |
| Muckle-Wells syndrome (MWS) | AD | |||
| Chronic infantile neurological cutaneous articular syndrome (CINCAs) | Sporadic, AD | |||
| NLRP12-associated autoinflammatory disorder (NLRP12AD) | AD | NLRP12 | 19q13.42 | NLRP12 (monarch-1) |
|
| ||||
| Autoinflammatory granulomatous disorders | ||||
| Blau syndrome (BS) | AD | NOD2/CARD15 | 16q12 | NOD2 (CARD15) |
| Early-onset sarcoidosis (EOS) | Sporadic | NOD2/CARD15 | 16q12 | NOD2 (CARD15) |
|
| ||||
| Autoinflammatory pyogenic disorders | ||||
| Pyogenic arthritis pyoderma gangrenosum and cystic acne syndrome (PAPAs) | AD | PSTPIP1 (CD2BP1) | 15q24-q25.1 | PSTPIP1 (CD2BP1) |
| Majeed syndrome (MS) | AR, sporadic | LPIN2 | 18q21.3-18q22 | Lipin-2 |
| Deficiency of the interleukin-1 receptor antagonist (DIRA) | AR | IL1RN | 2q14 | Interleukin-1 receptor antagonist |