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Article

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

Journal of immunology research - 1 Jan 2026

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42482462
DOI: 10.1155/jimr/8163275
PMCID: PMC13389440

Genes

CSF3R
STAT3
JAK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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