About this Research Topic
Yao syndrome (YAOS, OMIM 617321) is formerly designated nucleotide-binding oligomerization domain-containing protein 2 (NOD2)-associated autoinflammatory disease primarily involving the innate immune system. This disease is characterized by recurrent episodes of fever, dermatitis, arthralgias, distal leg swelling, gastrointestinal complaints, sicca-like symptoms, and eyelid swelling. This disease can also cause physical and mental disabilities.
Specific NOD2 mutations increase susceptibility and serve as diagnostic markers for the disease. Since our description in 2011, there have been increasing reports of the disease, mostly single-case reports in America, Europe, and Asia. However, reports of case series of YAOS have been scarce in the literature. While this disease may not be unusual, physicians who specialize in this disease are fairly uncommon and patients with this disease often have a hard time locating specialists. To further increase awareness of the disease, we call for more case and case series reports from different disciplines in the medical field.
This disease can be confused with other systemic autoinflammatory diseases, such as familial Mediterranean fever, Cryopyrin-associated periodic syndrome, and NLRP12 autoinflammatory disease, among others. YAOS has been recently included in the new category of Genetically Transitional Disease, a new concept in genomic medicine. With the new knowledge, physicians or researchers would be able to better understand the disease. A correct diagnosis will aid in the appropriate choice of treatment and genetic counseling, as well as reassurance for patients. The mechanisms of the disease have been previously studied, and results were published. Further study of the pathogenesis of the disease in view of immune, molecular, and signaling pathways is needed to better search for and develop more effective treatment options.
We welcome the submission of Case Reports (case series reports are preferred), Brief Research Reports, and Original Research, and Review articles that cover, but are not limited to, the following sub-topics:
• Mechanistic studies of YAOS at immune and molecular levels
• Human and animal study results on interactions between NOD2 and other NOD-like receptors
• NOD2-associated diseases: clinical, immune and molecular mechanisms, and therapeutic advances
Prof. John Davis receives grant funding from Pfizer, works with Girihlet (licensed technology), and holds a provisional patent (application no. 63/243,933) entitled "Methods and Materials for Assessing and Treating Arthritis. The other Topic Editors declare no competing interests with regard to the Research Topic subject.
Specific NOD2 mutations increase susceptibility and serve as diagnostic markers for the disease. Since our description in 2011, there have been increasing reports of the disease, mostly single-case reports in America, Europe, and Asia. However, reports of case series of YAOS have been scarce in the literature. While this disease may not be unusual, physicians who specialize in this disease are fairly uncommon and patients with this disease often have a hard time locating specialists. To further increase awareness of the disease, we call for more case and case series reports from different disciplines in the medical field.
This disease can be confused with other systemic autoinflammatory diseases, such as familial Mediterranean fever, Cryopyrin-associated periodic syndrome, and NLRP12 autoinflammatory disease, among others. YAOS has been recently included in the new category of Genetically Transitional Disease, a new concept in genomic medicine. With the new knowledge, physicians or researchers would be able to better understand the disease. A correct diagnosis will aid in the appropriate choice of treatment and genetic counseling, as well as reassurance for patients. The mechanisms of the disease have been previously studied, and results were published. Further study of the pathogenesis of the disease in view of immune, molecular, and signaling pathways is needed to better search for and develop more effective treatment options.
We welcome the submission of Case Reports (case series reports are preferred), Brief Research Reports, and Original Research, and Review articles that cover, but are not limited to, the following sub-topics:
• Mechanistic studies of YAOS at immune and molecular levels
• Human and animal study results on interactions between NOD2 and other NOD-like receptors
• NOD2-associated diseases: clinical, immune and molecular mechanisms, and therapeutic advances
Prof. John Davis receives grant funding from Pfizer, works with Girihlet (licensed technology), and holds a provisional patent (application no. 63/243,933) entitled "Methods and Materials for Assessing and Treating Arthritis. The other Topic Editors declare no competing interests with regard to the Research Topic subject.
Keywords: NOD2, autoinflammatory disease, immunity, arthralgia, dermatitis, fever, gastrointestinal, Yao syndrome
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