Yao Syndrome (YAOS) Overview

Definition

• Yao syndrome, formerly known as NOD2-associated autoinflammatory disease, is an autoinflammatory syndrome.
• It involves episodes of fever and abnormal inflammation, mainly affecting the skin, joints, and gastrointestinal system.

Common Symptoms

• Arthralgia (joint pain)
• Fever
• Diarrhea
• Abdominal pain
• Keratoconjunctivitis sicca (dry eyes)
• Pleurisy
• Idiopathic pericarditis
• Xerostomia (dry mouth)
• Erythematous plaques
• Dermatitis

Diagnosis Criteria

• Major Criteria (must fulfill 2):
  1. Periodic occurrence twice
  2. Recurrent fever or dermatitis or both
• Minor Criteria (at least one required):
  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:
  • Presence of 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
  • Monogenic autoinflammatory diseases

Treatment

• A study showed the effectiveness of the drug canakinumab in treating YAOS.
• Suggests canakinumab as a potential therapeutic option.

Inheritance

• Yao syndrome follows a multifactorial inheritance pattern.