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ORIGINAL RESEARCH article

Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders: Autoinflammatory Disorders
Volume 15 - 2024 | doi: 10.3389/fimmu.2024.1458118
This article is part of the Research Topic Basic, clinical, and translational studies of Yao syndrome and other NOD2 related diseases View all 6 articles

Comprehensive clinical phenotype, genotype and therapy in Yao syndrome

Provisionally accepted
Hafsa Nomani Hafsa Nomani 1Song Wu Song Wu 1Ashmia Saif Ashmia Saif 1Frank Hwang Frank Hwang 1Jane Metzger Jane Metzger 1Brianne Navetta-Modrov Brianne Navetta-Modrov 1Peter Gorevic Peter Gorevic 1Ivona Aksentijevich Ivona Aksentijevich 2Qingping Yao Qingping Yao 1*
  • 1 Stony Brook University, Stony Brook, New York, United States
  • 2 National Human Genome Research Institute (NIH), Bethesda, Maryland, United States

The final, formatted version of the article will be published soon.

    Objective:Yao syndrome (YAOS) is formerly called nucleotide-binding oligomerization domain containing 2 (NOD2)-associated autoinflammatory disease.We report a large cohort of YAOS.We conducted a retrospective analysis of a cohort of adult patients with systemic autoinflammatory diseases (SAIDs). All patients underwent testing for a periodic fever syndrome gene panel.Results: A total of 194 patients carried NOD2 variants, 152 patients were diagnosed with YAOS, and 42 had mixed autoinflammatory diseases with combined variants in NOD2 and other SAID-associated genes. Demographic, clinical and molecular data were summaried. In sub-group analysis of the 194 patients, individual patients were often identified to carry two or more variants that usually included IVS8+158/R702W, IVS8+158/L1007fs, IVS8+158/V955I, IVS8+158/other, or NOD2/variants in other SAID genes. Ninety-nineSome patients carried single variants. Taken together, these variants contribute to the disease in combination or individually.This largest cohort has provided comprehensive clinical and genotyping data in YAOS. Variants in the NOD2 gene can give rise to a spectrum from inflammatory bowel disease to autoinflammatory disease.This report further raises awareness of the underdiagnosed disease in the medical community.

    Keywords: autoinflammatory disease, Blau syndrome, phenotype, genetically transitional disease, Genotype, inflammatory bowel disease, Nod2, Yao syndrome

    Received: 01 Jul 2024; Accepted: 06 Sep 2024.

    Copyright: © 2024 Nomani, Wu, Saif, Hwang, Metzger, Navetta-Modrov, Gorevic, Aksentijevich and Yao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Qingping Yao, Stony Brook University, Stony Brook, 11794, New York, United States

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