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Article

Case report: Macrophage activation syndrome in a patient with Kabuki syndrome.

Frontiers in immunology - 1 Jan 2024

Zhang Jingyuan, Kang Yuanbo, Xia Zenan, Chong Yuming, Long Xiao, Shen Min

Abstract excerpt

Macrophage activation syndrome (MAS), is a severe and fatal complication of various pediatric inflammatory disorders. Kabuki syndrome (KS), mainly caused by lysine methyltransferase 2D (KMT2D; OMIM 602113) variants, is a rare congenital disorder with multi-organ deficiencies. To date, there have been no reported cases of MAS in patients with KS. This report describes a case of a 22-year-old male with Kabuki...

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Identifiers

PMID: 39139573
DOI: 10.3389/fimmu.2024.1412084
PMCID: PMC11319294

Genes

KMT2D

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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