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Updated: Jun 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

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DOCK8 缺乏症是由于两位患有高IgE综合征的亲属的深层内在变异引起的

Fatma Betul Oktelik1, Muyun Wang2, Sevgi Keles3

  • 1Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Immunology, Aziz Sancar Institute of Experimental Medicine (Aziz Sancar DETAE), Istanbul University, Istanbul, Turkiye; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

Clinical immunology (Orlando, Fla.)
|October 22, 2024
PubMed
概括

在细胞动力学8 (DOCK8) 的致力者中,一种新型的深层内部变异会导致超免疫球蛋白E综合征 (HIES). 这种非编码突变影响T细胞功能,并强调了探索无法解释的免疫缺陷中的内基区域的重要性.

关键词:
在 DOCK8 里面,你会看到 DOCK8.超免疫球蛋白E综合征 (HIES) 是一种免疫的先天错误 免疫的先天错误内部突变是一种内在突变.整体外基因组测序 (WES) 测序

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