A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency

Hanna Suheir; Beziat Vivien; Jouanguy Emmanuelle; Casanova Jean Laurent; Etzioni Amos

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A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency

机译：表现为孤立的自然杀伤细胞缺乏症的儿童中RTEL1的纯合突变

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来源
《The Journal of Allergy and Clinical Immunology》 |2015年第4期|共7页
作者
Hanna Suheir; Beziat Vivien; Jouanguy Emmanuelle; Casanova Jean Laurent; Etzioni Amos;
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正文语种 eng
中图分类医学免疫学;
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1. A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency [J] . Hanna Suheir, Beziat Vivien, Jouanguy Emmanuelle, The Journal of Allergy and Clinical Immunology . 2015,第4期

机译：表现为孤立的自然杀伤细胞缺乏症的儿童中RTEL1的纯合突变
2. STAT3 mutations in natural killer cells are associated with cytopenia in patients with chronic lymphoproliferative disorder of natural killer cells [J] . Kawakami Toru, Sekiguchi Nodoka, Kobayashi Jun, International journal of hematology . 2019,第5期

机译：天然杀伤细胞中的STAT3突变与慢性淋巴抑制性疾病的天然杀伤细胞患者的细胞贫症有关
3. A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency [J] . Parry David A., Holmes Tim D., Gamper Nikita, The Journal of Allergy and Clinical Immunology . 2016,第3期

机译：纯合子STIM1突变削弱了存储操作的钙进入和天然杀伤细胞效应子功能，而没有临床免疫缺陷
4. GENERATION OF NATURAL KILLER CELLS FROM SERUM-FREE EXPANDED CD34~+ CELLS ISOLATED FROM HUMAN UMBILICAL CORD BLOOD [C] . I-Ting Kao, Zwe-Ling Kong, Mei-Ling Wu, Annual Meeting of the Japanese Association for Animal Cell Technology . 2006

机译：从无血清膨胀的CD34〜+细胞中产生自然杀伤细胞的产生从人脐带血中分离的细胞
5. Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C [D] . Yamamoto Koji, Matsushita Tadashi, Sugiura Isamu, 1992

机译：纯合蛋白C缺乏症：鉴定导致突变蛋白C分泌受损的新型错义突变
6. A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency [O] . David A. Parry, Tim D. Holmes, Nikita Gamper, -1

机译：纯合子STIM1突变削弱了存储操作的钙进入和天然杀伤细胞效应子功能而没有临床免疫缺陷
7. A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency [O] . Parry David A., Holmes Tim D., Gamper Nikita, 2016

机译：纯合子STIM1突变削弱了存储操作的钙进入和天然杀伤细胞效应子功能，而没有临床免疫缺陷

A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency

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