ADA2 Deficiency: Case Report of a Rare Phenotype with ALPS and CVID-like presentation

Chang Yenhui; Derfalvi Beata; Issekutz Andrew; Shi Jingda; Alonzo Perla; Pascual Cherry Jo; Issekutz Thomas; Walter Jolan E.

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ADA2 Deficiency: Case Report of a Rare Phenotype with ALPS and CVID-like presentation

机译：ADA2缺乏：含有阿尔卑斯山和CVID介绍的罕见表型的病例报告

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来源
《Journal of Clinical Immunology》 |2018年第3期|共2页
作者
Chang Yenhui; Derfalvi Beata; Issekutz Andrew; Shi Jingda; Alonzo Perla; Pascual Cherry Jo; Issekutz Thomas; Walter Jolan E.;
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作者单位

Johns Hopkins All Childrens Hosp Immunogenet Sect St Petersburg FL USA;

Dalhousie Univ Div Immunol Dept Pediat IWK Hlth Ctr Halifax NS Canada;

Dalhousie Univ Pediat Pathol &

Microbiol Immunol IWK Hlth Ctr Halifax NS Canada;

Johns Hopkins All Childrens Hosp St Petersburg FL USA;

Johns Hopkins All Childrens Hosp St Petersburg FL USA;

Johns Hopkins All Childrens Hosp St Petersburg FL USA;

Dalhousie Univ Div Immunol Dept Pediat IWK Hlth Ctr Halifax NS Canada;

Univ S Florida Johns Hopkins All Childrens Hosp Pediat &

Med St Petersburg FL USA;

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原文格式 PDF
正文语种 eng
中图分类医学免疫学;
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1. ADA2 Deficiency: Case Report of a Rare Phenotype with ALPS and CVID-like presentation [J] . Chang Yenhui, Derfalvi Beata, Issekutz Andrew, Journal of Clinical Immunology . 2018,第3期

机译：ADA2缺乏：含有阿尔卑斯山和CVID介绍的罕见表型的病例报告
2. ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters [J] . I Touitou, M P Rodero, K Deiva, RMD Open . 2016,第1期

机译：ADA2缺乏症：两姐妹新表型和新突变的病例报告
3. A Rare Phenotype of Alpha-1-Antitrypsin Deficiency Owing to PI*IS in a Newborn With Liver Disease [J] . Huang Alice C., Perez Carla, Felipez Lina, Journal of pediatric gastroenterology and nutrition . 2017,第5期

机译：由于pi *而罕见的α-1-抗胰蛋白素缺乏表型是肝病的新生儿
4. Quantification and Phenotyping of alpha-1-Antitrypsin Deficiency by a Peptide MRM Assay [C] . Linda M. Benson, Yuhong Chen, Melissa R. Synder, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2009

机译：肽MRM测定法量化和α-1-抗抗胰蛋白酶缺乏的量化和表型
5. IT control deficiencies that affect the financial reporting of companies since the enactment of the Sarbanes Oxley Act. [D] . Harper, Roosevelt. 2014

机译：自《萨班斯·奥克斯利法案》颁布以来，影响公司财务报告的IT控制缺陷。
6. ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation [O] . Federica Barzaghi, Federica Minniti, Margherita Mauro, -1

机译：异基因造血干细胞移植挽救ADA2缺陷所致的ALPS类表型
7. ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters [O] . F Uettwiller, G Sarrabay, M P Rodero, 2016

机译：ADA2缺乏：两个姐妹新表型和新型突变的病例报告

ADA2 Deficiency: Case Report of a Rare Phenotype with ALPS and CVID-like presentation

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