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Updated: Jan 12, 2026

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具有功能性质的混合损失和增益的ORAI1突变导致免疫缺陷和HLH

Lucile Noyer1, Priscilla S-W Yeung2, Sascha Kahlfuss1,3

  • 1Department of Pathology, New York University Grossman School of Medicine, New York, NY, USA.

Journal of human immunity
|November 7, 2025
PubMed
概括

在ORAI1中失去功能突变会导致CRAC通道病变,导致严重的免疫缺陷. 即使有一些构成性存储运行的Ca2+输入 (SOCE),患者也可以保持健康.

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