Yao syndrome

Yao syndrome (YAOS) (formerly called NOD2-associated autoinflammatory disease[1]) is an autoinflammatory syndrome involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system.[2][3][4]

Signs and symptoms

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
  1. "Yao syndrome". www.uniprot.org. UniProt. Retrieved 2019-12-15.
  2. Reference, Genetics Home. "Yao syndrome". Genetics Home Reference. National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2019-12-15.
  3. Public Domain This article incorporates public domain material from Yao Syndrome. United States National Library of Medicine. Retrieved 2019-11-18. (Genetics Home Reference).
  4. "OMIM Entry - # 617321 - YAO SYNDROME; YAOS". www.omim.org. Online Mendelian Inheritance in Man. Retrieved 2019-12-15.
  5. Yao, Qingping; Shen, Bo (2017-03-01). "A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease". The American Journal of Medicine. 130 (3): 365.e13–365.e18. doi:10.1016/j.amjmed.2016.09.028. ISSN 0002-9343. PMID 27984003.
  6. Yao, Qingping (September 2019). "Research letter: Effectiveness of canakinumab for the treatment of Yao syndrome patients". Journal of the American Academy of Dermatology. doi:10.1016/j.jaad.2019.09.020. ISSN 0190-9622. PMID 31541750.
  7. "OMIM Clinical Synopsis - #617321 - YAO SYNDROME; YAOS". omim.org. Retrieved 2019-11-18.
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