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Article

Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.

Orphanet journal of rare diseases - 13 Mar 2026

Li Yifan, Lv Qianying, Lu Wei, Liu Haimei, Feng Jiayan, Guan Wanzhen, Gong Yinv, Zeng Qiaoqian, Zhang Xiaomei, Xu Hong, Sun Li

Abstract excerpt

BACKGROUND: Monogenic lupus is a rare but severe form of systemic lupus erythematosus (SLE) that typically manifests during childhood. Mutations in SLC7A7 cause lysinuric protein intolerance (LPI), and this gene has been implicated in monogenic lupus. This study aimed to investigate the clinical features, treatment strategies, and outcomes of pediatric patients with monogenic lupus caused by SLC7A7 mutations....

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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: 41821046
DOI: 10.1186/s13023-026-04258-w
PMCID: PMC13097903

Genes

SLC7A7
ACR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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