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

Yao syndrome

Diagnostic criteria

Yao syndrome is diagnosed if 2 major criteria, at least one minor criterion, the molecular criterion, and exclusion criteria are fulfilled.

Yao syndrome

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.

Yao syndrome

Inheritance

Yao Syndrome inheritance is classified as Multifactorial Inheritance.

References

External links

MedGen-Yao Syndrome

Genetics Home Reference-Yao Syndrome

Autoinflammatory syndromes