Literature DB >> 27063589

Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1.

Yousef R Badran1, Michel J Massaad1, Wayne Bainter1, Brittney Cangemi1, Shafiq Ur Rehman Naseem2, Hashim Javad2, Salem Al-Tamemi2, Raif S Geha3, Janet Chou1.   

Abstract

ORAI1 is the pore-forming subunit of the calcium release-activated calcium channel responsible for calcium influx into cells triggered by endoplasmic reticulum store depletion. We report here a patient with severe combined immunodeficiency and absent store-operated calcium entry due to a novel mutation in ORAI1 that results in the expression of a C-terminally truncated protein that abolishes ORAI1 binding to STIM1.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  ORAI1; Severe combined immunodeficiency; Whole exome sequencing

Mesh：

Substances：

Year:  2016        PMID： 27063589     DOI： 10.1016/j.clim.2016.03.012

Source DB:  PubMed          Journal:  Clin Immunol        ISSN： 1521-6616            Impact factor:   3.969


  5 in total

Review 1.  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

2.  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

3.  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 4.  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

5.  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
  5 in total

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