TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

Ivona Aksentijevich; Qing Zhou; Angeliki Giannelou; Anna Sediva; Deborah Stone; Sergio Rosenzweig; Jehad Edwan; Martin Pelletier; Stoffels Monique; Lucie ?rámková; Amanda Ombrello; Karyl Barron; Daniel Kastner

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TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

机译：TRNT1错义突变定义了以发烧，严重贫血和b细胞免疫缺陷为特征的自身炎症性疾病

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《Pediatric rheumatology online journal》 |2014年第s1期|共页
作者
Ivona Aksentijevich; Qing Zhou; Angeliki Giannelou; Anna Sediva; Deborah Stone; Sergio Rosenzweig; Jehad Edwan; Martin Pelletier; Stoffels Monique; Lucie ?rámková; Amanda Ombrello; Karyl Barron; Daniel Kastner;
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中图分类小儿内科学;
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1. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) [J] . ChakrabortyP.K., Schmitz-AbeK., KennedyE.K., Blood: The Journal of the American Society of Hematology . 2014,第18期

机译：TRNT1突变会导致先天性铁粒幼细胞性贫血，伴有免疫缺陷，发烧和发育延迟（SIFD）
2. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency [J] . ZhouQ., LeeG.-S., BradyJ., The American Journal of Human Genetics . 2012,第4期

机译：编码磷脂酶Cγ2的PLCG2的超型错义突变导致具有免疫缺陷的遗传性自发性炎症
3. COMMON VARIABLE IMMUNODEFICIENCY CAUSED BY A HOMOZYGOUS MISSENSE MUTATION IN TRNT1 [J] . Frans Glynis, Moens Leen, Janssens Ann, Journal of Clinical Immunology . 2016,第3期

机译：TRNT1中同质异义突变导致的常见可变免疫缺陷
4. Defining a Glycosylation Site of Human PSA Prompted by Missense Mutation by LC-MS/MS [C] . Ehwang Song, Yunli Hu, Chuan-Yih Yu, ASMS Conference on Mass Spectrometry and Allied Topics . 2015

机译：通过LC-MS / MS定义由麦基突变突变的人PSA的糖基化位点
5. Defining the Molecular Mechanisms of Ubiquitin Proteasome System Dysfunction as a Driver of Disease: CHIP mutation in SCAR16 [D] . Rubel, Carrie E. 2015

机译：定义泛素蛋白酶体系统功能障碍作为疾病驱动因素的分子机制：SCAR16中的CHIP突变
6. TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever severe anemia and b-cell immunodeficiency [O] . Ivona Aksentijevich, Qing Zhou, Angeliki Giannelou, 2014

机译：TRNT1错义突变定义了一种以反复发烧严重贫血和b细胞免疫缺陷为特征的自身炎症性疾病
7. TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency [O] . 2014

机译：TRNT1错义突变定义了一种以反复发烧，严重贫血和b细胞免疫缺陷为特征的自身炎症性疾病

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

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