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Updated: May 13, 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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一种生殖基因异生殖主导阴性IKZF2变异导致综合征原发性免疫调节障碍和ICHAD

Henry Y Lu1,2, Maryam Vaseghi-Shanjani1,2, Avery J Lam3,4

  • 1Department of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.

Journal of clinical immunology
|April 28, 2025
PubMed
概括

一种新的综合症,ICHAD,与HELIOS缺乏症相关,导致免疫失调,导致儿科患者的自身免疫血液溶解性贫血和亚托皮炎. 这项研究详细介绍了这种罕见遗传疾病对免疫的影响.

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