ArticleArthritis research & therapy2024
Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome.
Article in Arthritis research & therapy, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 8 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
- Yao syndrome: Report of 3 cases with a family history.JAAD case reports · 2026Article
- Not getting the nod: The case against Yao syndrome.Journal of human immunity · 2026Review
- NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.Current rheumatology reports · 2026Review
- Clinical description, genetic analysis and characterization of two NLRP12 heterozygous VUS variants.Frontiers in immunology · 2026Article
- T-2 Toxin Exploits Gut-Derived Staphylococcus Saprophyticus to Disrupt Hepatic Macrophage Homeostasis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- NOD2-mediated immune dysregulation linking hidradenitis suppurativa and Yao syndrome: Insights from 2 cases.JAAD case reports · 2025Article
- Exploring the role of NOD2 variants in pediatric undifferentiated recurrent fever: a clinical and functional perspective.Frontiers in immunology · 2025Article
- Comprehensive clinical phenotype, genotype and therapy in Yao syndrome.Frontiers in immunology · 2024Article
- Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients.Frontiers in immunology · 2024Article
- The hidden base of the iceberg: gut peptidoglycome dynamics is foundational to its influence on the host.Gut microbesReview
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesThe study investigated the pathogenesis of Yao syndrome (YAOS), a rare systemic autoinflammatory disease associated with the nucleotide-binding oligomerization domain containing 2 (NOD2) gene variants.
methodsRNA sequencing analyses were used to detect transcriptomic profile changes. Immunoblot and immunohistochemistry were used to examine the NOD2-mediated inflammatory signaling pathways and ELISA was used to detect cytokines.
resultsTranscriptome analysis of YAOS revealed NOD-like receptor signaling pathway enrichment. Compared with HCs, P-RIP2, p-p65, p-p38, p-ERK, and p-JNK notably increased in PBMCs of a patient with YAOS. P-RIP2, p-p65, and p-p38 elevated in small intestinal mucosa tissues. P-p65 and p-p38 in synovial tissues from YAOS were higher than those in patients with rheumatoid arthritis (RA) and osteoarthritis (OA). Serum interleukin (IL)-6 level along with tumor necrosis factor (TNF)-α and IL-6 secreted from PBMCs were markedly higher in patients with YAOS in comparison to healthy controls (HCs). The supernatants of synovial cells from a patient with YAOS showed substantially higher IL-1β and IL-6 levels than those of RA and OA. Canakinumab therapy of a Q902K heterozygous patient with YAOS resulted in notable clinical improvement.
conclusionOverproduction of pro-inflammatory cytokines and the hyperactivation of NOD2-mediated signaling pathways were found in the NOD2 variant Q902K patient with YAOS. NOD2-RIP2-MAPK pathway might play a pivotal role in the pathogenesis of YAOS. These results provide new perspectives for targeted therapies in YAOS.
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