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Updated: Jun 28, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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两个婴儿的奥门综合征在Janus Kinase 3中具有不同的低态变异

Christo Tsilifis1,2, Jarmila Stremenova Spegarova2, Ross Good2

  • 1Paediatric Haematopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Victoria Wing, Royal Victoria Infirmary, Newcastle Upon Tyne, NE1 4LP, UK.

Journal of clinical immunology
|April 10, 2024
PubMed
概括

双样性低形态的Janus激酶3 (JAK3) 变体导致奥门综合征. 功能分析显示,一种新的JAK3R431P变体损害了激酶活性,扩大了已知的JAK3缺乏的表型.

关键词:
血液造血干细胞移植的目的是亚努斯酶 3 亚努斯酶 3 亚努斯酶奥门综合征是什么意思?严重的联合免疫缺陷.

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