Yao Syndrome

  • Qingping Yao


Yao syndrome (YAOS, OMIM 617321), formerly termed nucleotide-binding, oligomerization domain 2(NOD2)-associated autoinflammatory disease, is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants.


NOD2-associated autoinflammatory disease Nucleotide-binding, oligomerization domain 2 Yao syndrome 



Nucleotide-binding, oligomerization domain 2


Systemic autoinflammatory disease


Yao syndrome



I am grateful to my collaborators in both clinical and translational studies of the disease over the last several years. I am also thankful to the Cleveland Clinic and Stony Brook University, where the disease was discovered and has been studied.


  1. 1.
    Yao Q, Zhou L, Cusumano P, Bose N, Piliang M, Jayakar B, et al. A new category of autoinflammatory disease associated with NOD2 gene mutations. Arthritis Res Ther. 2011;13(5):R148.CrossRefGoogle Scholar
  2. 2.
    Yao Q, Su LC, Tomecki KJ, Zhou L, Jayakar B, Shen B. Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. J Am Acad Dermatol. 2013;68(4):624–31.CrossRefGoogle Scholar
  3. 3.
    Yao Q, Shen M, McDonald C, Lacbawan F, Moran R, Shen B. NOD2-associated autoinflammatory disease: a large cohort study. Rheumatology (Oxford). 2015;54(10):1904–12.CrossRefGoogle Scholar
  4. 4.
    Yao Q, Shen B. A systematic analysis of treatment and outcomes of NOD2-associated autoinflammatory disease. Am J Med. 2017;130(3):365 e13–8.CrossRefGoogle Scholar
  5. 5.
    Yao Q, Schils J. Distal lower extremity swelling as a prominent phenotype of NOD2-associated autoinflammatory disease. Rheumatology (Oxford). 2013;52(11):2095–7.CrossRefGoogle Scholar
  6. 6.
    Estephan M, Yao Q, Springer J. Case of NOD2-associated autoinflammatory disease successfully treated with sulfasalazine. J Clin Rheumatol. 2017;23(1):58–9.CrossRefGoogle Scholar
  7. 7.
    Yao Q, Lacbawan F, Li J. Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. Semin Arthritis Rheum. 2016;45(5):633–7.CrossRefGoogle Scholar
  8. 8.
    Dziedzic M, Marjanska A, Babol-Pokora K, Urbanczyk A, Grzesk E, Mlynarski W, et al. Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report. Pediatr Rheumatol. 2017;15(1):57.CrossRefGoogle Scholar
  9. 9.
    Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature. 2001;411(6837):599–603.CrossRefGoogle Scholar
  10. 10.
    Yao Q. Nucleotide-binding oligomerization domain containing 2: structure, function, and diseases. Semin Arthritis Rheum. 2013;68:624–31.Google Scholar
  11. 11.
    McDonald C, Shen M, Kabi A, Homer C, Yao Q. Functional consequences of NOD2 gene variants in patients with NOD2-associated autoinflammatory disease [abstract]. Arthritis Rheumatol. 2015;67(suppl 10):1719–20.Google Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of MedicineStony Brook University School of MedicineStony BrookUSA

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