• Source: Yao syndrome

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.




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

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