Yao syndrome
Yao syndrome (YAOS) (formerly called NOD2-associated
Signs and symptoms
- Arthralgia (Arthritis)
- Fever
- Diarrhea
- Abdominal Pain
- Keratoconjunctivitis Sicca(Dry eyes)
- Pleurisy
- Idiopathic Pericarditis
- Xerostomia (Dry mouth)
- 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.[5]
| 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 |
Treatment
A study to determine the effectiveness of Novartis pharmaceutical drug Canakinumab was conducted. In this study, canakinumab was effective in patients with YAOS, and thus clinical trial of canakinumab may be warranted as a therapeutic option for this disease.[6]
Inheritance
Yao Syndrome inheritance is classified as
Multifactorial Inheritance.[7]
References
- ^ "Yao syndrome". www.uniprot.org. UniProt. Retrieved 2019-12-15.
- U.S. National Library of Medicine. Retrieved 2019-12-15.
- ^
This article incorporates public domain material from Yao Syndrome. United States National Library of Medicine. Retrieved 2019-11-18. (Genetics Home Reference).
- ^ "OMIM Entry - # 617321 - YAO SYNDROME; YAOS". www.omim.org. Online Mendelian Inheritance in Man. Retrieved 2019-12-15.
- PMID 27984003.
- PMID 31541750.
- ^ "OMIM Clinical Synopsis - #617321 - YAO SYNDROME; YAOS". omim.org. Retrieved 2019-11-18.
