Yao syndrome (YAOS), 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 (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.
Clinical Criteria CommentsMajor1Periodic occurrence ≥ twice2Recurrent fever or dermatitis or bothMinor1Polyarthralgia/inflammatory arthritis, or distal extremity swelling2Abdominal pain or diarrhea or both3Sicca-like symptoms4Pericarditis or pleuritis or bothMolecular CriterionNOD2 IVS8+158 or R702W or both, or other rare variantsExclusion CriteriaHigh 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.
Inheritance Yao syndrome inheritance is classified as multifactorial inheritance.
References
External links
MedGen-Yao Syndrome Genetics Home Reference-Yao Syndrome