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Updated: Jun 10, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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低形态DCLRE1C缺陷从童年到成年期的可变临床表现

Esra Hazar1,2, Mehmet Ali Karaselek1, Hasan Kapakli1

  • 1Division of Pediatric Immunology and Allergy, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
|October 19, 2024
PubMed
概括

长期对DCLRE1C突变的严重综合免疫缺陷 (SCID) 患者的长期随访显示出可变的临床和免疫学发现. 一个T辅助1主导反应和增加的T卵泡辅助细胞可能会驱动慢性炎症和自免疫性后血造干细胞移植 (HSCT).

关键词:
在 DCLRE1C 中.这就是Artemisemis.综合性免疫缺陷症是一种免疫缺陷症.泄漏性严重的联合免疫缺陷.严重的综合免疫缺陷严重的免疫缺陷

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