Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings

Truck Johannes; Kelly Dominic F.; Taylor John M.; Kienzler Anne Kathrin; Lester Tracy; Seller Anneke; Pollard Andrew J.; Patel Smita Y.

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Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings

机译：CTP合酶1缺乏症的可变表型和免疫表型的离散变化：2个同胞的报告

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来源
《The Journal of Allergy and Clinical Immunology》 |2016年第6期|共12页
作者
Truck Johannes; Kelly Dominic F.; Taylor John M.; Kienzler Anne Kathrin; Lester Tracy; Seller Anneke; Pollard Andrew J.; Patel Smita Y.;
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正文语种 eng
中图分类医学免疫学;
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1. Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings [J] . Truck Johannes, Kelly Dominic F., Taylor John M., The Journal of Allergy and Clinical Immunology . 2016,第6期

机译：CTP合酶1缺乏症的可变表型和免疫表型的离散变化：2个同胞的报告
2. CTP Synthase 1 Deficiency in Successfully Transplanted Siblings with Combined Immune Deficiency and Chronic Active EBV Infection [J] . Kucuk Zeynep Yesim, Zhang Kejian, Filipovich Lisa, Journal of Clinical Immunology . 2016,第8期

机译：CTP合酶1成功移植的兄弟姐妹缺乏免疫缺陷和慢性活性EBV感染
3. GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype [J] . Lee Jin Sook, Yoo Yongjin, Lim Byung Chan, American journal of medical genetics, Part A . 2016,第8期

机译：两名韩国女性兄弟姐妹中由于ST3GAL5变异而导致的GM3合酶缺乏：伪装成Rett综合征样表型
4. 520-DAY ISOLATION AND CONFINEMENT SIMULATING A FLIGHT TO MARS REVEALS ELEVATED IMMUNE RESPONSES AND ALTERATIONS OF LEUKOCYTE PHENOTYPE (COSI STUDY) [C] . Alexander Chouker, Buqing Yi, Marina Rykova, International astronautical congress . 2013

机译：520天的隔离和密闭模拟飞行对白细胞表型的免疫反应和改变（COSI研究）
5. Associations of T-cell phenotypes with persistent oral thrush at CD4 positive cell counts greater than 500 per cubic millimeter and their interactions with progression of HIV disease (Immune deficiency). [D] . Foster, Virginia Brown. 2001

机译：T细胞表型与持续口鹅口疮在CD4阳性细胞数上的关联大于每立方毫米500，以及它们与HIV疾病进展（免疫缺陷）的相互作用。
6. Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype immune deficiencies and 1q21.1 microdeletion syndrome: a case report [O] . Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, 2018

机译：患有AEC样表型免疫缺陷和1q21.1微缺失综合征的患者中CHUK的新型杂合病原体变异：病例报告
7. Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblings [O] . Truck, J, Kelly, DF, Taylor, JM, 2016

机译：CTP合酶1缺乏症的可变表型和免疫表型的离散变化：两个兄弟姐妹的报告

Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings

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