Table 1.
Genetic characterization of the hereditary autoinflammatory disorders with their pattern of inheritance.
| Disease | Gene | Locus | Protein Encoded | Inheritance |
|---|---|---|---|---|
| Familial Mediterranean fever | MEFV | 16p13.3 | Pyrin | recessive |
| Tumor necrosis factor receptor-associated periodic syndrome | TNFRSF1A | 12p13 | Tumor necrosis factor receptor type 1 | dominant |
| Mevalonate kinase deficiency | MVK | 12q24 | Mevalonate kinase | recessive |
| Cryopyrin-associated periodic syndrome | NLRP3 | 1q44 | Cryopyrin (NLRP3 protein) | dominant |
| Interleukin-1 receptor antagonist deficiency | IL1RN | 2q | Interleukin-1 receptor antagonist | recessive |
| Majeed syndrome | LPIN2 | 18p11.31 | Lipin 2 | recessive |
| Blau syndrome | NOD2/CARD15 | 16q12.1 | NOD2/CARD15 | dominant |
| NLRP12-associated autoinflammatory disorder | NLRP12 | 19q13.42 | Monarch-1 | dominant |
| Proteasome-associated autoinflammatory syndrome | PSMB8 | 6p21.32 | Proteasome subunit b type 1 | recessive |
| STING-assocoated vasculopathy with onset in infancy | TMEM173 | 5q31 | STING protein | dominant |
| PAPA syndrome/early-onset sarcoidosis | PSTPIP1 | 15q24.3 | CD2 antigen-binding protein 1 | dominant |
| Deficiency of adenosine deaminase 2 | CECR1 | 22q11.1 | Adenosine deaminase 2 | recessive |
| Recurrent hydatidiform mole | NLRP7 | 19q13 | NLRP7 protein | recessive |
NLRP: NACHT (neuronal apoptosis inhibitor protein, class 2 transcription activator of the MHC, heterokaryon incompatibility and telomerase-associated protein 1), LRR (leucine-rich repeat) and PYD (pyrin domain) domains-containing protein 12; STING: stimulator of interferon genes; PAPA: pyogenic arthritis, pyoderma gangrenosum and acne; NOD2: nucleotide-binding oligomerization domain protein 2; CARD 15: caspase recruitment domain-containing protein 15.