自己免疫調節基因の異なった変異は,メドゥラー状の胸部上皮細胞の転写および機能的特性に差異的に影響を及ぼします

Pedro Paranhos Tanaka1, Vinicius Cotta-Almeida2,3,4, Eduardo Antônio Donadi5

  • 1Molecular Immunogenetics Group, Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, 3900, Bandeirantes Avenue, 14040-900, Ribeirão Preto, SP, Brazil.

Human molecular genetics
|February 13, 2026
PubMed
まとめ

1型自己免疫複分分泌症候群 (APS-1) は,AIRE遺伝子変異によるものです. この研究では,異なるAIRE変異がメドゥラー胸部上皮細胞 (mTEC) の機能を破壊し,免疫耐性に影響することを示しています.

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