Evidence map›Paper›PMID 39696094›Full record

ReviewBMC pediatrics2024

Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.

Lin Ye, Xue Song, Yun Cui, Shengnan Wu, Yizhong Wang, Ting Zhang, Wenhao Weng, Ting Ge

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

Review in BMC pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Navigating primary and secondary immunodeficiency intersections: how to find IEI hidden within SID.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026
    Review
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

8 authors.

Lin Ye *Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, 355 Luding Road, Shanghai, 200062, China.
Xue Song *Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, 355 Luding Road, Shanghai, 200062, China.
Yun CuiDepartment of Critical Care Medicine, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200062, China.
Shengnan WuDepartment of Clinical Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, 355 Luding Road, Shanghai, 200062, China.
Yizhong WangDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, 355 Luding Road, Shanghai, 200062, China.
Ting ZhangDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, 355 Luding Road, Shanghai, 200062, China.
Wenhao WengDepartment of Clinical Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, 355 Luding Road, Shanghai, 200062, China. wengwenhao@shchildren.com.cn.
Ting GeDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, 355 Luding Road, Shanghai, 200062, China. geting2152@shchildren.com.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare single-gene X-linked immunodeficiency disease caused by mutations in the forkhead box protein 3 (FOXP3) gene. The typical clinical manifestations of IPEX mainly include severe atopic dermatitis, insulin-dependent type 1 diabetes mellitus, and intractable diarrhea. CASE PRESENTATION: Here, we report a boy with intractable diarrhea diagnosed with early-onset IPEX syndrome due to the c.434C > T (p.Ala145Val) mutation in exon 4 of the FOXP3 gene. The patient experienced intractable diarrhea and severe weight loss, and his clinical symptoms could not be alleviated by conventional supportive and anti-infection treatment. Sirolimus, an immunosuppressant, preferentially inhibits effector T cells while allowing the proliferation of Tregs and is used to treat IPEX patients and alleviate intractable diarrhea.

conclusionWe reviewed the literature on the use of sirolimus for the treatment of IPEX syndrome over the past two decades.

Indexed as

DiarrheaForkhead Transcription FactorsGenetic Diseases, X-LinkedImmunosuppressive AgentsSirolimusDiabetes Mellitus, Type 1HumansImmune System DiseasesInfantMaleMutationForkhead Transcription FactorsFOXP3 protein, humanImmunosuppressive AgentsSirolimusCase reportFOXP3ImmunoregulationIPEXSirolimus

Identifiers

PMID39696094
PMCPMC11653752

What OpenQuestion holds

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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.