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Article

Clinical and genetic analysis of macrophage activation syndrome complicating juvenile idiopathic inflammatory myopathies.

Pediatric research - 1 Feb 2025

Li Guangzhao, Yan Xin, Luo Chong, An Yunfei, Zhang Zhiyong, Tang Xuemei, Zhao Xiaodong, Yang Xi

Abstract excerpt

BACKGROUND: Macrophage activation syndrome (MAS) is a serve complication of juvenile idiopathic inflammatory myopathies (JIIMs). This study delineates the clinical manifestations and genetic underpinnings of JIIM-MAS patients. METHODS: We retrospectively analysed clinical and UNC13D gene from JIIM patients admitted to our centre between 2011 and 2021 to identify cases of MAS. Additionally, a literature review...

Read the complete abstract on PubMed

Topics

Humans
Macrophage Activation Syndrome
Male
Female
Child
Retrospective Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child, Preschool

Myositis

Membrane Proteins

Polymorphism, Single Nucleotide

Adolescent

Mutation

Immunosuppressive Agents

Infant

Adrenal Cortex Hormones

Source

Identifiers

PMID: 39181985
DOI: 10.1038/s41390-024-03515-7

Genes

UNC13D
IMPACT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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