Evidence map›Paper›PMID 39290705›Full record

ArticleFrontiers in immunology2024

Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients.

Jingyuan Zhang, Xin Huang, Min Shen

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. 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.] · 2026
    Article
  2. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Jingyuan Zhang *Department of Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College; State Key Laboratory of Complex Severe and Rare Diseases, PUMCH; Department of Rheumatology and Clinical Immunology, PUMCH; National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology; Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Xin Huang *Department of Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College; State Key Laboratory of Complex Severe and Rare Diseases, PUMCH; Department of Rheumatology and Clinical Immunology, PUMCH; National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology; Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Min ShenDepartment of Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College; State Key Laboratory of Complex Severe and Rare Diseases, PUMCH; Department of Rheumatology and Clinical Immunology, PUMCH; National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology; Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Yao syndrome (YAOS, OMIM# 617321) is a kind of systemic autoinflammatory diseases (SAIDs) linked to the nucleotide-binding oligomerization domain containing 2 ( Methods: This study enrolled 15 adult patients diagnosed with YAOS at Peking Union Medical College Hospital from April 2015 to May 2024. Whole-exome sequencing was performed on all patients. Clinical data, genetic variations, and treatment responses were documented and compared with a Caucasian cohort. Results: The mean age of disease onset was 35 ± 17 years old. The most common clinical manifestations included recurrent high-grade fever (100%), gastrointestinal symptoms (73.3%), arthralgia/arthritis, fatigue, myalgia, and lower extremity swelling (46.7%). All patients exhibited elevated acute-phase reactants during episodes. 12 heterozygous Conclusion: Chinese patients with YAOS had more pronounced inflammatory manifestations compared to the Caucasian cohort. Variants c.-14C>T, A110T, S127L, A661P, K818Q, A886V, R471C, and A432V were identified as novel

Indexed as

Exome SequencingGenotypeNod2 Signaling Adaptor ProteinAdolescentAdultAntibodies, Monoclonal, HumanizedArthritisChinaDermatitisEast Asian PeopleFemaleFeverHereditary Autoinflammatory DiseasesHumansMaleMiddle AgedAntibodies, Monoclonal, HumanizedcanakinumabNOD2 protein, humanNod2 Signaling Adaptor ProteinYao syndromegene variantnucleotide-binding oligomerization domain containing 2(NOD2)systemic autoinflammatory diseasesTNF inhibitorsYao syndrome

Identifiers

PMID39290705
PMCPMC11406172

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.