Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1-Reference-Cited by-同舟云学术

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

Published:2016-05 Issue: Volume:166-167 Page:100-102
ISSN:1521-6616
Container-title:Clinical Immunology
language:en
Short-container-title:Clinical Immunology

Author:

Badran Yousef R.,Massaad Michel J.,Bainter Wayne,Cangemi Brittney,Naseem Shafiq Ur Rehman,Javad Hashim,Al-Tamemi Salem,Geha Raif S.,Chou Janet

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference9 articles.

1. Ion channels and transporters in lymphocyte function and immunity;Feske;Nat. Rev. Immunol.,2012

2. Orai1, STIM1, and their associating partners;Srikanth;J. Physiol.,2012

3. Crystal structure of the calcium release-activated calcium channel Orai;Hou;Science,2012

4. Immunodeficiency due to mutations in ORAI1 and STIM1;Feske;Clin. Immunol.,2010

5. A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function;Chou;J. Allergy Clin. Immunol.,2015

Cited by 11 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

1. The role of ion channels in immune-related diseases;Progress in Biophysics and Molecular Biology;2023-01

2. Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study;Journal of Clinical Immunology;2022-11-03

3. ORAI1 Ca2+ Channel as a Therapeutic Target in Pathological Vascular Remodelling;Frontiers in Cell and Developmental Biology;2021-04-06

4. Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency;Journal of Clinical Immunology;2021-03-01

5. STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases;Frontiers in Physiology;2020-11-04

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