Review Article
Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues
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 |
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