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Article

[A case of juvenile arthritis associated with LACC1 gene variation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2023

Zhang Y, Sun L N, Yuan D Y, Song L P, Zhang L, Zhang Y P

Abstract excerpt

患儿女 9岁，因“双膝关节肿痛半个月”就诊，临床以双膝关节肿痛、活动受限、炎性指标升高、贫血、影像学异常为主要表现，诊断为幼年特发性关节炎（JIA），对免疫抑制剂和肿瘤坏死因子-α抑制剂反应差，基因检测发现LACC1基因存在2个杂合变异，考虑为LACC1基因变异相关的幼年型关节炎。LACC1基因变异相关的幼年型关节炎为临床罕见的常染色体隐性遗传性JIA，临床表型多变，给予托珠单抗治疗后症状改善。.

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Identifiers

PMID: 37899347
DOI: 10.3760/cma.j.cn112140-20230415-00272

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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