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Article

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

BMC pediatrics - 18 Dec 2024

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

Abstract excerpt

BACKGROUND: Immune 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...

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Identifiers

PMID: 39696094
DOI: 10.1186/s12887-024-05264-2
PMCID: PMC11653752

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