Literature DB >> 26070885

A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.

Janet Chou1, Yousef R Badran1, Christina S K Yee1, Wayne Bainter1, Toshiro K Ohsumi2, Suleiman Al-Hammadi3, Sung-Yun Pai4, Stefan Feske5, Raif S Geha1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 26070885      PMCID： PMC4530045          DOI： 10.1016/j.jaci.2015.03.050

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


× No keyword cloud information.
  9 in total

1.  A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens.

Authors:  Janet Chou; Michel J Massaad; Brittney Cangemi; Wayne Bainter; Craig Platt; Yousef R Badran; Bram P Raphael; Daniel S Kamin; Jeffrey D Goldsmith; Sung-Yun Pai; Waleed Al-Herz; Raif S Geha
Journal:  J Allergy Clin Immunol       Date:  2015-02-10       Impact factor: 10.793

2.  CD4⁺ and CD8⁺ T cell-dependent antiviral immunity requires STIM1 and STIM2.

Authors:  Patrick J Shaw; Carl Weidinger; Martin Vaeth; Kevin Luethy; Susan M Kaech; Stefan Feske
Journal:  J Clin Invest       Date:  2014-08-26       Impact factor: 14.808

Review 3.  Regulation of lymphocyte function by ORAI and STIM proteins in infection and autoimmunity.

Authors:  Patrick J Shaw; Stefan Feske
Journal:  J Physiol       Date:  2012-05-21       Impact factor: 5.182

Review 4.  Immunodeficiency due to mutations in ORAI1 and STIM1.

Authors:  Stefan Feske; Capucine Picard; Alain Fischer
Journal:  Clin Immunol       Date:  2010-03-01       Impact factor: 3.969

5.  Biochemical and functional characterization of Orai proteins.

Authors:  Yousang Gwack; Sonal Srikanth; Stefan Feske; Fernando Cruz-Guilloty; Masatsugu Oh-hora; Daniel S Neems; Patrick G Hogan; Anjana Rao
Journal:  J Biol Chem       Date:  2007-02-09       Impact factor: 5.157

6.  ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis.

Authors:  Andrea Maul-Pavicic; Samuel C C Chiang; Anne Rensing-Ehl; Birthe Jessen; Cyril Fauriat; Stephanie M Wood; Sebastian Sjöqvist; Markus Hufnagel; Ilka Schulze; Thilo Bass; Wolfgang W Schamel; Sebastian Fuchs; Hanspeter Pircher; Christie-Ann McCarl; Katsuhiko Mikoshiba; Klaus Schwarz; Stefan Feske; Yenan T Bryceson; Stephan Ehl
Journal:  Proc Natl Acad Sci U S A       Date:  2011-02-07       Impact factor: 11.205

Review 7.  Ion channels and transporters in lymphocyte function and immunity.

Authors:  Stefan Feske; Edward Y Skolnik; Murali Prakriya
Journal:  Nat Rev Immunol       Date:  2012-06-15       Impact factor: 53.106

8.  ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.

Authors:  Christie-Ann McCarl; Capucine Picard; Sara Khalil; Takumi Kawasaki; Jens Röther; Alexander Papolos; Jeffery Kutok; Claire Hivroz; Francoise Ledeist; Katrin Plogmann; Stephan Ehl; Gundula Notheis; Michael H Albert; Bernd H Belohradsky; Janbernd Kirschner; Anjana Rao; Alain Fischer; Stefan Feske
Journal:  J Allergy Clin Immunol       Date:  2009-12       Impact factor: 10.793

9.  Hair loss and defective T- and B-cell function in mice lacking ORAI1.

Authors:  Yousang Gwack; Sonal Srikanth; Masatsugu Oh-Hora; Patrick G Hogan; Edward D Lamperti; Megumi Yamashita; Curtis Gelinas; Daniel S Neems; Yoshiteru Sasaki; Stefan Feske; Murali Prakriya; Klaus Rajewsky; Anjana Rao
Journal:  Mol Cell Biol       Date:  2008-06-30       Impact factor: 4.272
  9 in total
  12 in total

Review 1.  Calcium Signaling: From Normal B Cell Development to Tolerance Breakdown and Autoimmunity.

Authors:  Patrice Hemon; Yves Renaudineau; Marjolaine Debant; Nelig Le Goux; Sreya Mukherjee; Wesley Brooks; Olivier Mignen
Journal:  Clin Rev Allergy Immunol       Date:  2017-10       Impact factor: 8.667

Review 2.  Diseases caused by mutations in ORAI1 and STIM1.

Authors:  Rodrigo S Lacruz; Stefan Feske
Journal:  Ann N Y Acad Sci       Date:  2015-10-15       Impact factor: 5.691

Review 3.  Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.

Authors:  Antonio Michelucci; Maricela García-Castañeda; Simona Boncompagni; Robert T Dirksen
Journal:  Cell Calcium       Date:  2018-10-30       Impact factor: 6.817

Review 4.  Advances in clinical immunology in 2015.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2016-12       Impact factor: 10.793

5.  Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function.

Authors:  Axel R Concepcion; Martin Vaeth; Larry E Wagner; Miriam Eckstein; Lee Hecht; Jun Yang; David Crottes; Maximilian Seidl; Hyosup P Shin; Carl Weidinger; Scott Cameron; Stuart E Turvey; Thomas Issekutz; Isabelle Meyts; Rodrigo S Lacruz; Mario Cuk; David I Yule; Stefan Feske
Journal:  J Clin Invest       Date:  2016-10-10       Impact factor: 14.808

6.  ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

Authors:  Jayson Lian; Mario Cuk; Sascha Kahlfuss; Lina Kozhaya; Martin Vaeth; Frédéric Rieux-Laucat; Capucine Picard; Melina J Benson; Antonia Jakovcevic; Karmen Bilic; Iva Martinac; Peter Stathopulos; Imre Kacskovics; Thomas Vraetz; Carsten Speckmann; Stephan Ehl; Thomas Issekutz; Derya Unutmaz; Stefan Feske
Journal:  J Allergy Clin Immunol       Date:  2017-11-16       Impact factor: 10.793

Review 7.  Structural Mechanisms of Store-Operated and Mitochondrial Calcium Regulation: Initiation Points for Drug Discovery.

Authors:  Megan Noble; Qi-Tong Lin; Christian Sirko; Jacob A Houpt; Matthew J Novello; Peter B Stathopulos
Journal:  Int J Mol Sci       Date:  2020-05-21       Impact factor: 5.923

8.  STIM1-mediated calcium influx controls antifungal immunity and the metabolic function of non-pathogenic Th17 cells.

Authors:  Sascha Kahlfuss; Ulrike Kaufmann; Axel R Concepcion; Lucile Noyer; Dimitrius Raphael; Martin Vaeth; Jun Yang; Priya Pancholi; Mate Maus; James Muller; Lina Kozhaya; Alireza Khodadadi-Jamayran; Zhengxi Sun; Patrick Shaw; Derya Unutmaz; Peter B Stathopulos; Cori Feist; Scott B Cameron; Stuart E Turvey; Stefan Feske
Journal:  EMBO Mol Med       Date:  2020-07-01       Impact factor: 12.137

Review 9.  ORAI1 Ca2+ Channel as a Therapeutic Target in Pathological Vascular Remodelling.

Authors:  Heba Shawer; Katherine Norman; Chew W Cheng; Richard Foster; David J Beech; Marc A Bailey
Journal:  Front Cell Dev Biol       Date:  2021-04-06

10.  Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.

Authors:  Fang Yu; Nourhen Agrebi; Rafah Mackeh; Khaled Abouhazima; Khadija KhudaBakhsh; Mehdi Adeli; Bernice Lo; Amel Hassan; Khaled Machaca
Journal:  J Clin Immunol       Date:  2021-03-01       Impact factor: 8.317
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.