Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations

Author:

Tesi Bianca12,Chiang Samuel C. C.3,El-Ghoneimy Dalia4,Hussein Ayad Ahmed5,Langenskiöld Cecilia6,Wali Rabia7,Fadoo Zehra8,Silva João Pinho9,Lecumberri Ramón10,Unal Sule11,Nordenskjöld Magnus2,Bryceson Yenan T.3,Henter Jan-Inge1,Meeths Marie12

Affiliation:

1. Childhood Cancer Research Unit; Department of Women's and Children's Health; Karolinska Institutet; Karolinska University Hospital Solna; Stockholm Sweden

2. Clinical Genetics Unit; Department of Molecular Medicine and Surgery; Center for Molecular Medicine; Karolinska Institutet; Karolinska University Hospital Solna; Stockholm Sweden

3. Department of Medicine; Center for Infectious Medicine; Karolinska Institutet; Karolinska University Hospital Huddinge; Stockholm Sweden

4. Pediatric Allergy and Immunology Unit; Children's Hospital; Ain Shams University; Cairo Egypt

5. Bone Marrow and Stem Cell Transplantation Program; King Hussein Cancer Center; Amman Jordan

6. Department of Women's and Children's Health; Queen Silviás Childreńs Hospital; University of Gothenburg; Gothenburg Sweden

7. Shaukat Khanum Memorial Cancer Hospital & Research Center; Lahore Pakistan

8. Department of Oncology and Pediatrics; Aga Khan University; Karachi Pakistan

9. Institute for Research and Innovation on Health and Center for Predictive and Preventive Genetics of the IBMC-Institute for Cell and Molecular Biology; University of Porto; Portugal

10. Hematology Service; University Clinic of Navarra; Pamplona Spain

11. Division of Pediatric Hematology; Hacettepe University; Ankara Turkey

Funder

Swedish Children's Cancer Foundation

Swedish Research Council

Cancer and Allergy Foundation of Sweden

Swedish Cancer Foundation

Stockholm County Council (ALF project)

European Research Council

ERC Grant Agreement

Swedish Foundation for Strategic Research

Board of Postgraduate Studies at Karolinska Institute

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology, and Child Health

Reference36 articles.

1. The structural basis for membrane binding and pore formation by lymphocyte perforin;Law;Nature,2010

2. Perforinopathy: A spectrum of human immune disease caused by defective perforin delivery or function;Trapani;NK Cell Biol,2013

3. Perforin gene defects in familial hemophagocytic lymphohistiocytosis;Stepp;Science,1999

4. Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules;De Saint Basile;Nat Rev Immunol,2010

5. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis;Henter;Pediatr Blood Cancer,2007

Cited by 37 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3