Evidence map›Paper›PMID 39430755›Full record

ArticleFrontiers in immunology2024

Clinical phenotype,

Katrina A Williamson, Matthew J Samec, Jenny A Patel, Amir B Orandi, Benjamin Wang, Cynthia S Crowson, Edward V Loftus, Afsaneh Alavi, Ann M Moyer, John M Davis

Abstract read
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 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 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
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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

10 authors.

Katrina A WilliamsonDivision of Rheumatology, Mayo Clinic, Rochester, MN, United States.
Matthew J SamecDivision of Rheumatology, Mayo Clinic, Rochester, MN, United States.
Jenny A PatelDepartment of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, United States.
Amir B OrandiDivision of Pediatric Rheumatology, Mayo Clinic, Rochester, MN, United States.
Benjamin WangDivision of Rheumatology, Mayo Clinic, Jacksonville, FL, United States.
Cynthia S CrowsonDivision of Rheumatology, Mayo Clinic, Rochester, MN, United States.
Edward V LoftusDivision of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, United States.
Afsaneh AlaviDepartment of Dermatology, Mayo Clinic, Rochester, MN, United States.
Ann M MoyerDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.
John M DavisDivision of Rheumatology, Mayo Clinic, Rochester, MN, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: The aim of this study was to characterize the phenotype and genotype of patients with Yao syndrome (YAOS), with focus on comparing to prior cohorts, identifying novel features, and describing treatment observations. Methods: A retrospective medical records review of patients with YAOS seen at Mayo Clinic was conducted to characterize clinical features, Results: Twenty-two patients diagnosed with YAOS were included. Eighteen patients (81.8%) were female and twenty (90.9%) were White. Mean age at symptom onset was 24.0 ± 14.8 years. Common clinical manifestations included fever (81.8% of patients), rash (95.5%), chronic gastrointestinal symptoms (100%), arthralgia/arthritis (95.5%), and sicca symptoms (68.2%). Conclusion: Our findings substantiate the occurrence of fevers, arthralgia/arthritis, rash, chronic gastrointestinal symptoms, and sicca-like symptoms described previously in patients with YAOS. Novel clinical features and one

Indexed as

GenotypeNod2 Signaling Adaptor ProteinPhenotypeAdolescentAdultArthralgiaArthritisChildDermatitisFemaleFeverHereditary Autoinflammatory DiseasesHumansMaleMiddle AgedMutationNOD2 protein, humanNod2 Signaling Adaptor ProteinYao syndromeautoinflammatory syndromescase series designNOD2periodic fever syndromesYao syndrome

Identifiers

PMID39430755
PMCPMC11486699

What OpenQuestion holds

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Registered trials

None linked

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.