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What is Yao Syndrome?

Yao Syndrome is an Autoinflammatory Disease that affects many different parts of the body. It is a periodic disease characterized by fever, rash, joint pain/leg swelling, sicca-like symptoms, and gastrointestinal symptoms. It is associated with genetic variants of the NOD2 gene and is a disease that involves the hyperactivation of the innate immune system.

Yao Syndrome is considered a Genetically Transitional Disease; this means that while a gene mutation is necessary, it is not sufficient to cause disease alone.

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Other Names and/or Shorthand for this Condition: 

  • NOD2-Associated Autoinflammatory Disease

  • NAID

  • NOD2- Associated AID

  • YAOS

Common Symptoms

Swollen eye

Eyelid Swelling

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Fatigue

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Gastrointestinal Complaints

Fever

Fever

Joint Pain

Joint Pain

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Distal Extremity Swelling

Rash

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Dry Eyes/Mouth

Swollen Lymphs

Lymph Node Swelling

Other Symptoms can include, but are not limited to:

Night Sweats, Oral Ulceration, Asthma, Bloating, Diarrhea, Abdominal Pain, Recurrent Chest Pain, Recurrent Pleurisy, Pericarditis, Dizziness, Dysautonomia, Headaches, Weight Loss, Kidney Stones, Flushing, Muscle Pain/Soreness, Hearing Loss, etc

The Road to Diagnosis

Yao Syndrome has a range of symptoms that are on a spectrum of severity that varies from person to person. There is no singular test to confirm a diagnosis of Yao Syndrome without ruling out other possible conditions and causes first. Your healthcare team should evaluate your current medical history and use the information from diagnostic testing to rule out other potential causes such as autoimmune disease. 

Some tests to expect: 

  • Routine Screening - CBC, CMP, UA

  • Autoimmune Panels - ANA, ENA, dsDNA, RF, CCP, ANCA

  • Inflammatory Markers - CRP, ESR

  • Complement Proteins - C3/C4

  • Colonoscopy

  • Endoscopy

  • CT of Abdomen/Pelvis 

  • Dermatologic Workup - possible skin biopsy of rash 

  • Echocardiogram

  • Chest X-Ray or CT 

  • Genetic Testing 

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Communication Tip: Write down your symptoms and bring it to your appointment(s) with your care team so you don't have to worry about forgetting anything. 

References

Yao Q, Center of Autoinflammatory Diseases [Internet]. Stony Brook (NY): Renaissance School of Medicine, Stony Brook University; c2025 [cited 2025 Oct 28].

https://renaissance.stonybrookmedicine.edu/medicine/rheumatology/autoinflammatory-diseases-center/referral

Nomani H, Wu S, Saif A, Hwang F, Metzger J, Navetta-Modrov B, Gorevic PD, Aksentijevich I and Yao Q (2024) Comprehensive clinical phenotype, genotype and therapy in Yao syndrome. Front. Immunol. 15:1458118.

doi: 10.3389/fimmu.2024.1458118

Williamson KA, Samec MJ, Patel JA, Orandi AB, Wang B, Crowson CS, Loftus EV Jr., Alavi A, Moyer AM and Davis JM III (2024) Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series. Front. Immunol. 15:1304792.

doi: 10.3389/fimmu.2024.1304792

Zhang J, Huang X and Shen M (2024) Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients. Front. Immunol. 15:1444542.

doi: 10.3389/fimmu.2024.1444542

Attribution:

Fatigue Icon designed by HAJICON from Flaticon

Eye Icon designed by Smashicons from Flaticon

Dry Eye Icon designed by Karyative from Flaticon
Joint Pain Icon designed by Karyative from Flaticon

Rash Icon designed by Eucalyp from Flaticon

Lymph Node Icon designed by Eucalyp from Flaticon

Gastro System Icon by Freepik on Flaticon

Fever Icon designed by aiconslab on Flaticon

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