Table 2.
The proposed “IL-18opathies”
| Disease | Gene | IL-18 biomarker | Evidence of response to IL-18 blockade |
|---|---|---|---|
| AOSD | n/a | [5, 17] | Phase II [29] |
| Systemic JIA | n/a | [4, 6–9, 16, 24, 26] | - |
| SJIA-MAS | n/a | “ | - |
| Refractory SJIA | n/a | “ | - |
| SJIA-LD | n/a | [26, 30–32] | Case report [33] |
| NLRC4-MAS/AIFEC | NLRC4 | [18, 19, 34–36] | Case report [34] |
| XLP2 | XIAP | [4, 20] | - |
| NOCARH | CDC42 | [21, 22] | - |
| PAPA/PAID | PSTPIP1 | [28, 37] | - |
AOSD Adult-Onset Still Disease, SJIA-LD SJIA associated lung disease, AIFEC Autoinflammation with infantile enterocolitis, XLP X-linked lymphoproliferative disease, NOCARH Neonatal-onset cytopenia, autoinflammation, rash, hemophagocytosis, PAPA Pyogenic arthritis, pyoderma gangrenosum, acne syndrome, PAID PSTPIP1-associated inflammatory disease, CR Case report