ArticleArthritis research & therapy2011
A new category of autoinflammatory disease associated with NOD2 gene mutations.
Article in Arthritis research & therapy, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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38 citing papers in PubMed, 79 citations in OpenAlex.
- Multi-omics characterization of Yao syndrome identifies three pathophysiological axes and disease-specific divergence from Blau syndrome.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Review
- Not getting the nod: The case against Yao syndrome.Journal of human immunity · 2026Review
- An unusual presentation of dermatitis in a Yao syndrome patient.JAAD case reports · 2026Article
- Genotype-phenotype correlation in a cohort of pediatric patients with autoinflammatory diseases carryingFrontiers in immunology · 2025Article
- Yao syndrome in a child with C2 deficiency.The journal of allergy and clinical immunology. In practice · 2024Article
- Canakinumab in Yao Syndrome: Insights From a Comprehensive Case Report and Literature Review .Cureus · 2024Article
- The NLR family of innate immune and cell death sensors.Immunity · 2024Review
- Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome.Arthritis research & therapy · 2024Article
- Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients.Frontiers in immunology · 2024Article
- The expanding clinical spectrum of autoinflammatory diseases withFrontiers in immunology · 2024Review
- Editorial: Basic, clinical, and translational studies of Yao syndrome and other NOD2 related diseases.Frontiers in immunology · 2024Article
- Clinical phenotype,Frontiers in immunology · 2024Article
- The NLR gene family: from discovery to present day.Nature reviews. Immunology · 2023Review
- Ocular sarcoidosis in adults and children: update on clinical manifestation and diagnosis.Journal of ophthalmic inflammation and infection · 2023Review
- Big Data in Gastroenterology Research.International journal of molecular sciences · 2023Review
- Tofacitinib, a suppressor of NOD2 expression, is a potential treatment for Blau syndrome.Frontiers in immunology · 2023Article
- Multifaceted roles and regulation of nucleotide-binding oligomerization domain containing proteins.Frontiers in immunology · 2023Review
- Autoinflammatory manifestations in adult patients.Clinical and experimental immunology · 2022Article
- Treatment of refractory Yao syndrome with canakinumab.JAAD case reports · 2022Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAutoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high titers of autoantibodies or antigen-specific T cells, and derive from genetic variants of the innate immune system. This study characterized a cohort of patients with similar phenotypes and nucleotide oligomerization domain 2 (NOD2) gene mutations.
methodsDiagnostically challenging patients with the following clinical and genetic characteristics were prospectively studied between January 2009 and April 2011: periodic fever, dermatitis, polyarthritis, serositis, negative serum autoantibodies and additional positive NOD2 IVS8+158 gene mutation. Genetic testing for gene mutations of NOD2, tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS) and familial Mediterranean fever (FMF) was performed.
resultsAll seven patients with the disease were Caucasians, with four being male. The mean age at disease onset was 40.7 years and disease duration was 3.2 years. These patients characteristically presented with periodic fever, dermatitis and inflammatory polyarthritis. There were gastrointestinal symptoms in three patients, granulomas of the skin and gut in two, and recurrent chest pain in two, with one having pleuritis and pericarditis. Three patients had sicca-like symptoms. Five patients had increased acute phase reactants. All seven patients had negative tests for autoantibodies but carried the NOD2 gene mutation IVS8+158 with four having concurrent R702W mutation.
conclusionsOur cohort may represent a new disease category of autoinflammatory disease with characteristic clinical phenotypes and genotypes. It may somewhat resemble pediatric Blau's syndrome.
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