Evidence map›Paper›PMID 42482462›Full record

ArticleJournal of immunology research2026

Crohn's Disease Phenotype in a Patient With Severe Congenital Neutropenia Caused by CSF3R Variants: Exploring the Pathogenesis and Effects of Thalidomide Treatment.

Yanqiu Wang, Lin Wang, Chun Pan, Zhiheng Huang, Ping Li, Xiaoxia Qiu, Cuifang Zheng, Ying Huang

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

Article in Journal of immunology research, 2026. 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. Article
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.

Yanqiu WangDepartment of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, National Children's Medical Center, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China, fudan.edu.cn.ORCID https://orcid.org/0009-0009-5181-5289
Lin WangDepartment of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, National Children's Medical Center, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China, fudan.edu.cn.ORCID https://orcid.org/0000-0002-1530-6542
Chun PanDepartment of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, National Children's Medical Center, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China, fudan.edu.cn.ORCID https://orcid.org/0000-0002-4775-1587
Zhiheng HuangDepartment of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, National Children's Medical Center, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China, fudan.edu.cn.ORCID https://orcid.org/0000-0002-9571-3585
Ping LiDepartment of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, National Children's Medical Center, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China, fudan.edu.cn.ORCID https://orcid.org/0009-0003-3620-7177
Xiaoxia QiuDepartment of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, National Children's Medical Center, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China, fudan.edu.cn.ORCID https://orcid.org/0000-0002-1911-7466
Cuifang ZhengDepartment of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, National Children's Medical Center, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China, fudan.edu.cn.ORCID https://orcid.org/0000-0002-1465-6727
Ying HuangDepartment of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, National Children's Medical Center, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China, fudan.edu.cn.ORCID https://orcid.org/0000-0002-1233-7220

Funding

National Key Research and Development Program of China 2023YFC2706501Shanghai Medical Innovation Research Special Program 23Y11905100Shanghai Rising-Star Program 22QA1401400
6 · The paper itself

Abstract

This study describes a case of severe congenital neutropenia (SCN) harboring biallelic CSF3R variants and presenting with a novel inflammatory bowel disease (IBD) phenotype that responded remarkably to thalidomide. We performed functional studies to reveal the pathogenicity of the CSF3R and to elucidate the potential mechanisms underlying the therapeutic effects of thalidomide. A comprehensive review of the literature identified 18 reported cases of SCN associated with CSF3R variants. We subsequently validated the pathogenicity of the variants in the patient's peripheral blood by flow cytometry, which demonstrated reduced granulocyte colony-stimulating factor (G-CSF) receptor (G-CSFR) expression and markedly decreased phosphorylation of signal transducer and activator of transcription (STAT)3 (p-STAT3) following stimulation with recombinant human G-CSF (rhG-CSF). Thalidomide augmented rhG-CSF-induced STAT3 phosphorylation in HEK293T cells harboring the CSF3R Q257

Indexed as

Congenital Bone Marrow Failure SyndromesCrohn DiseaseNeutropeniaReceptors, Colony-Stimulating FactorThalidomideFemaleGranulocyte Colony-Stimulating FactorHEK293 CellsHumansMaleMutationPhenotypePhosphorylationSignal TransductionSTAT3 Transcription FactorCSF3R protein, humanGranulocyte Colony-Stimulating FactorReceptors, Colony-Stimulating FactorSTAT3 Transcription FactorThalidomidecSF3RIBDphenotypethalidomide

Identifiers

PMID42482462
PMCPMC13389440

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.