Evidence map›Paper›PMID 41993173›Full record

ArticleFrontiers in immunology2026

Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel

Huilin Mu, Li Liu, Zongwen Chen, Ran Chen, Xin Liu, Junfeng Wu, Xi Yang, Xuemei Tang, Lina Zhou, Yanjun Jia and 6 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

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.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

16 authors.

Huilin Mu *National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Li Liu *Tianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin, China.
Zongwen Chen *Department of Pediatrics, Chongqing University Three Gorges Hospital, Chongqing, China.
Ran ChenNational Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Xin LiuTianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin, China.
Junfeng WuNational Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Xi YangNational Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Xuemei TangNational Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Lina ZhouNational Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Yanjun JiaNational Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Pratap Kumar PatraDepartment of Pediatrics, All India Institute of Medical Sciences, Patna, Bihar, India.
Nisar Ahmad WaniDepartment of Pediatric Radiology, Government Medical College, Srinagar, Kashmir, India.
Saniya GuptaDepartment of Endocrinology, Edison Hospital, Mohali, Punjab, India.
Xiaodong ZhaoNational Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Aaqib Zaffar BandayDepartment of Pediatrics, Government Medical College, Srinagar, Kashmir, India.
Yunfei AnNational Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Spondyloenchondrodysplasia with immune dysregulation (SPENCD) is a rare autosomal recessive disorder caused by biallelic Methods: We conducted a multicenter study including five patients from India and from Chongqing and Tianjin, China. Whole-exome sequencing identified six Results: Four novel Conclusion: This study expands the spectrum of

Indexed as

Janus Kinase InhibitorsOsteochondrodysplasiasPiperidinesAutoimmune DiseasesChildChild, PreschoolExome SequencingFemaleHumansMaleMutationPyrimidinesTartrate-Resistant Acid PhosphataseTreatment OutcomeACP5 protein, humanJanus Kinase InhibitorsPiperidinesPyrimidinesTartrate-Resistant Acid PhosphatasetofacitinibACP5autoinflammatory disordersinborn errors of immunityJanus kinase inhibitorspondyloenchondrodysplasia with immune dysregulationtofacitinib

Identifiers

PMID41993173
PMCPMC13079001

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Registered trials

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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.