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Article

From metabolic disorder to autoimmunity: lupus-like immune dysregulation in children with SLC7A7-associated lysinuric protein intolerance.

BMC pediatrics - 5 Aug 2026

Tan Xiaohua, Li Li, Li Caifeng

Abstract excerpt

OBJECTIVE: To characterize the clinical and immunological features of lupus-like immune dysregulation in children with lysinuric protein intolerance (LPI) through case analysis and literature review. METHODS: This study retrospectively analyzed the clinical records, genetic testing results, and immunological data of two LPI cases treated at Beijing Children's Hospital. A literature review was simultaneously...

Read the complete abstract on PubMed

Topics

Humans
Female
Amino Acid Metabolism, Inborn Errors
Infant
Retrospective Studies
Fusion Regulatory Protein 1, Light Chains

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

Autoimmunity

Lupus Erythematosus, Systemic

Immunosuppressive Agents

Mutation

Amino Acid Transport System y+L

Source

Open in PubMed Open full text

Identifiers

PMID: 42778902
DOI: 10.1186/s12887-026-07467-1
PMCID: PMC13602791

Genes

SLC7A7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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