Table 1.
Classification of monogenic autoinflammatory diseases (AIDs).
| Disorder (abbreviation) | #OMIM | Gene (Locus) | Protein involved | Inheritance |
|---|---|---|---|---|
| Familial Mediterranean fever | 249100 | MEFV (16p13.3) | Pyrin (marenostrin) | Autosomal recessive |
| Hyper-IgD syndrome | 260920 | MVK (12q24.11) | Mevalonate kinase | Autosomal recessive |
| Mevalonate kinase deficiency | 260920 | MVK (12q24) | Mevalonate kinase | Autosomal recessive |
| Tumor necrosis factor receptor-associated periodic syndrome | 142680 | TNFRSF1A (12p13) | Tumor necrosis factor receptor type-1 | Autosomal dominant |
| Familial cold autoinflammatory syndrome (FCAS) | 120100 | NLRP3 (1q44) | Cryopyrin | Autosomal dominant |
| Muckle–Wells syndrome | 191900 | NLRP3 (1q44) | Cryopyrin | Autosomal dominant |
| Neonatal onset multisystem inflammatory disease | 607115 | NLRP3 (1q44) | Cryopyrin | Autosomal dominant |
| Deficiency of interleukin (IL)-1 receptor antagonist | 612852 | IL1RN (2q) | IL-1 receptor antagonist | Autosomal recessive |
| Blau syndrome | 186580 | NOD2/CARD15 (16q12.1-13) | Nucleotide-binding oligomerization domain-containing protein 2 | Autosomal dominant |
| Deficiency of the IL-36 receptor antagonist | 614204 | IL36RN (2q14) | IL-36 receptor antagonist | Autosomal recessive |
| Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome | 256040 | PSMB8 (6p21) | Inducible subunit β of the proteasome | Autosomal recessive |
| Majeed syndrome | 609628 | LPIN2 (18p11.31) | Lipin 2 | Autosomal recessive |
| CARD14-mediated pustular psoriasis | 177900 | CARD14 (17q25.3) | Caspase recruitment domain family member 14 | Autosomal dominant |
| NLRP12-autoinflammatory disease | 609648 | NLRP12 (19q13.42) | Monarch 1 | Autosomal dominant |
| Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome | 604416 | PSTPIP1 (15q24-25) | CD2 antigen-binding protein 1 | Autosomal dominant |
| Deficiency of adenosine deaminase 2 | 615688 | CECR1 (22q11.1) | Adenosine deaminase 2 | Autosomal recessive |
| STING-associated vasculopathy | 615934 | TMEM173 (5q31.2) | Transmembrane protein 173 | Autosomal dominant |
| TNFRSF11A-associated disease | 603499 | TNFRSF11A (18q21.33) | Tumor necrosis factor receptor 11A | Autosomal dominant |
| NLRC4-associated diseases (NLRC4-MAS, SCAN4, NLRC4-FCAS) | 606831 | NLRC4 (2p22.3) | NLR family CARD domain-containing Protein 4 | Autosomal dominant |
| Sideroblastic anemia, B-cell immunodeficiency, periodic fevers, developmental delay | 616084 | TRNT1 (3p26.2) | CCA-adding enzyme | Autosomal recessive |
| Monogenic form of systemic juvenile idiopathic arthritis | 613409 | LACC1 (13q14.11) | Laccase (multicopper oxidoreductase) domain containing 1 | Autosomal recessive |