Table 1.
Characterization of monogenic autoinflammatory diseases with complex phenotypes.
| Secondary component |
Susceptibility to infections | Autoimmunity | Uncontrolled hyperinflammation as in HLH |
|---|---|---|---|
| Autoinflammation | |||
| APLAID | APLAID (15) | ||
| HOIL-1 | HOIL-1 (14, 22) | ||
| SIFD | SIFD (16, 24) | ||
| AGS | AGS (17, 26–36) | ||
| NLRC4-MAS | NLRC4-MAS (18) | ||
| MKD | MKD (5) | MKD (5) | MKD (5) |
HLH, hemophagocytic lymphohistiocytosis; APLAID, autoinflammation and PLCγ2-associated antibody deficiency and immune dysregulation; HOIL-1, heme-oxidized IRP2 ubiquitin ligase 1 deficiency; SIFD, sideroblastic anemia with B-cell immunodeficiency, periodic fever, and developmental delay; AGS, Aicardi–Goutières syndrome; NLRC4-MAS, NLR family CARD domain containing 4-macrophage-activating syndrome; MKD, mevalonate kinase deficiency.