Yao syndrome
Yao syndrome, formerly called NOD2-associated autoinflammatory disease, is an autoinflammatory syndrome involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system.
Signs and symptoms
- Arthralgia
- Fever
- Diarrhea
- Abdominal pain
- Keratoconjunctivitis sicca
- Pleurisy
- Idiopathic pericarditis
- Xerostomia
- Erythematous plaques
- Dermatitis
Diagnostic criteria
Yao syndrome is diagnosed if 2 major criteria, at least one minor criterion, the molecular criterion, and exclusion criteria are fulfilled.| Clinical Criteria | Comments |
| Major | |
| 1 | Periodic occurrence ≥ twice |
| 2 | Recurrent fever or dermatitis or both |
| Minor | |
| 1 | Polyarthralgia/inflammatory arthritis, or distal extremity swelling |
| 2 | Abdominal pain or diarrhea or both |
| 3 | Sicca-like symptoms |
| 4 | Pericarditis or pleuritis or both |
| Molecular Criterion | NOD2 IVS8+158 or R702W or both, or other rare variants |
| Exclusion Criteria | High titer antinuclear antibodies, inflammatory bowel disease, Blau syndrome, adult sarcoidosis, primary Sjögren syndrome and monogenic autoinflammatory diseases |