Evidence map›Paper›PMID 42105147›Full record

ArticleJournal of clinical immunology2026

Tofacitinib as a Successful Treatment for Hyper-IgE Syndrome and Autoimmunity Associated with Constitutive Activation of JAK3.

Yuxin Pei, Bei Jin, Reyila Abasi, Cheng Cheng, Hongjie Zhuang, Shuhan Zeng, Mengjie Jiang, Heying Pei, Xiaoyun Jiang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical 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

9 authors.

Yuxin Pei *Department of Pediatric Nephrology and Rheumatology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Bei Jin *Department of Pediatric Nephrology and Rheumatology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Reyila Abasi *Department of Pediatric Nephrology and Rheumatology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Cheng ChengDepartment of Pediatric Nephrology and Rheumatology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Hongjie ZhuangDepartment of Pediatric Nephrology and Rheumatology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Shuhan ZengDepartment of Pediatric Nephrology and Rheumatology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Mengjie JiangDepartment of Pediatric Nephrology and Rheumatology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Heying PeiDepartment of Biotherapy, Cancer Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Sichuan, Chengdu, 610041, China. phy_05@163.com.
Xiaoyun JiangDepartment of Pediatric Nephrology and Rheumatology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China. jxiaoy@mail.sysu.edu.cn.

Funding

Guangdong Basic and Applied Basic Research Foundation 2021A1515110197National Natural Science Foundation of China 82003799Project supported by the KRT Plan of Guangdong Medical Development Foundation No.K-20240123The National Key Research and Development Program of China 2022YFC2705100，2022YFC2705101
6 · The paper itself

Abstract

The Janus Kinase 3 (JAK3) germline gain-of-function (GOF) mutation is a rare inborn error of immunity, first reported in 2020, characterized by lymphopenia and chronic NK-cell proliferation. However, its role in autoimmunity remains unclear, and no direct association with hyper-IgE syndrome (HIES) has been established. In this study, we describe a patient presenting with HIES, myositis, lymphopenia, and autoimmune hypothyroidism. Whole-exome sequencing identified a novel compound heterozygous JAK3 mutation (c.2524_2525delinsTT and c.2805G > C), predicted to be deleterious. Flow cytometry and RNA sequencing of peripheral blood mononuclear cells revealed a significant reduction in T cells and NK cells, particularly naïve CD4

Indexed as

AutoimmunityJanus Kinase 3Job SyndromePiperidinesProtein Kinase InhibitorsPyrimidinesExome SequencingGain of Function MutationHumansMaleMutationTreatment OutcomeJAK3 protein, humanJanus Kinase 3PiperidinesProtein Kinase InhibitorsPyrimidinestofacitinibAutoimmunityHyper-IgE syndromeInborn error of immunityJanus kinase 3Janus kinase inhibitor

Identifiers

PMID42105147
PMCPMC13328136

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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.