conditions are increasingly recognized and to date predominantly involve loss-of-function variants in TNFAIP3. However, a RELA mutation that results in truncated protein variant has been reported to cause severe autoinflammatory disease due to impaired NF-κB signaling and increased apoptosis. The phenotypes associated with this disease include mucocutaneous ulcerative syndrome and neuromyelitis optica (NMO). References Further reading External links Transcription factors