Evidence map›Paper›PMID 42682521›Full record

ArticleFrontiers in immunology2026

Genetically defined systemic autoinflammatory diseases in pediatric patients with Behçet's disease.

Shaoling Zheng, Pui Y Lee, Qing Zhou, Xu Han, Xuechan Huang, Yukai Huang, Jiajun Chen, Chun Zheng, Xiaolin Fang, Jianhua Yu and 4 more

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Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Shaoling ZhengDepartment of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Pui Y LeeDivision of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Qing ZhouState Key Laboratory of Common Mechanism Research for Major Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Xu HanLiangzhu Laboratory, Zhejiang University, Hangzhou, Zhejiang, China.
Xuechan HuangDepartment of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Yukai HuangDepartment of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Jiajun ChenDepartment of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Chun ZhengDepartment of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Xiaolin FangDepartment of Laboratory Medicine, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Jianhua YuDepartment of Hematology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Aiwu WangDepartment of Pathology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Xia PanDepartment of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Xiaomin YuLiangzhu Laboratory, Zhejiang University, Hangzhou, Zhejiang, China.
Tianwang LiDepartment of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: The aim of this study was to characterize the genetic basis of Behçet's disease (BD) and mimics in a pediatric cohort. Methods: We retrospectively studied 34 patients of pediatric BD and mimics who underwent whole-exome sequencing (WES) in our center from 2020 to 2025. Clinical characteristics and laboratory parameters of the patients with or without genetically defined systemic autoinflammatory diseases (SAIDs) were compared. Results: WES identified 10 probands with genetically defined SAID (the SAID+ group). Nine probands possessed pathogenic or likely pathogenic germline variants in Conclusion: Pediatric patients with autoinflammatory diseases mimicking BD have heightened systemic inflammation and more severe organ involvement that necessitate intensified immunosuppressive regimens. Genetic evaluation should be considered for BD cases with early disease onset, recurrent fever, enteritis, intestinal ulcers, or hematologic abnormalities.

Indexed as

Behcet SyndromeHereditary Autoinflammatory DiseasesAdolescentChildChild, PreschoolCytokinesExome SequencingFemaleGenetic Predisposition to DiseaseHumansMaleRetrospective StudiesCytokinesBehçet’s diseaseGATA2 deficiencyHA20RELA haploinsufficiencysystemic autoinflammatory diseases

Identifiers

PMID42682521
PMCPMC13529686

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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.