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Yao Syndrome: A Potential Role and Association of Vasoactive Intestinal Peptide with NOD2.

ABSTRACT: Nucleotide-binding oligomerization domain containing protein 2 (NOD2) is a cytosolic receptor. Both NOD2 and vasoactive intestinal peptide (VIP) are critical in regulation of immune and inflammatory response. Yao syndrome (YAOS, OMIM 617321) is an autoinflammatory disease associated with specified NOD2 mutations. Herein, we report a well-studied case of YAOS masquerading as mast cell disorder and neuroendocrine tumors to support the involvement of VIP in YAOS. For the first time, this case study suggests a potential relationship between NOD2 and VIP. This could provide a novel avenue for mechanistic study of NOD2-associated disease.

SUBMITTER: Navetta-Modrov B

PROVIDER: S-EPMC9524777 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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Yao Syndrome: A Potential Role and Association of Vasoactive Intestinal Peptide with NOD2.

Navetta-Modrov Brianne B Ghebrehiwet Berhane B Yao Qingping Q

Rheumatology and immunology research 20210301 1

Nucleotide-binding oligomerization domain containing protein 2 (NOD2) is a cytosolic receptor. Both NOD2 and vasoactive intestinal peptide (VIP) are critical in regulation of immune and inflammatory response. Yao syndrome (YAOS, OMIM 617321) is an autoinflammatory disease associated with specified NOD2 mutations. Herein, we report a well-studied case of YAOS masquerading as mast cell disorder and neuroendocrine tumors to support the involvement of VIP in YAOS. For the first time, this case study ...[more]

PMID: 36467900

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