From: 10th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)
Patient | Sex | Disease type | Genetic test |
---|---|---|---|
1, 2 | F | FMF | confirmed & not done |
3 | M | HIDS | confirmed |
4, 5, 6 | F, F, M | CINCA/NOMID | confirmed |
7 | F | DADA2 | confirmed |
8 | F | Cold-induced AID | not done |
9 | F | TRAPS-like phenotype | not done |
10 | F | AID, undefined | new mutation was found, under investigation at NIH |
11 | F | AID, undefined | WGS, mutations not found |
12 | F | NRLC4-MAS like illness | Panel sequencing for 15 genes including NLRC4-negative result |