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

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

doi:10.1016/j.clim.2016.03.012

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

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

^*Corresponding author for this work

Child Health

Research output: Contribution to journal › Letter › peer-review

13 Citations (Scopus)

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.

Original language	English
Pages (from-to)	100-102
Number of pages	3
Journal	Clinical Immunology
Volume	166-167
DOIs	https://doi.org/10.1016/j.clim.2016.03.012
Publication status	Published - May 1 2016

Keywords

ORAI1
Severe combined immunodeficiency
Whole exome sequencing

ASJC Scopus subject areas

Immunology and Allergy
Immunology

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10.1016/j.clim.2016.03.012

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

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.",

keywords = "ORAI1, Severe combined immunodeficiency, Whole exome sequencing",

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

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year = "2016",

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doi = "10.1016/j.clim.2016.03.012",

language = "English",

volume = "166-167",

pages = "100--102",

journal = "Clinical Immunology",

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T1 - Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1

AU - Badran, Yousef R.

AU - Massaad, Michel J.

AU - Bainter, Wayne

AU - Cangemi, Brittney

AU - Naseem, Shafiq Ur Rehman

AU - Javad, Hashim

AU - Al-Tamemi, Salem

AU - Geha, Raif S.

AU - Chou, Janet

PY - 2016/5/1

Y1 - 2016/5/1

N2 - 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.

AB - 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.

KW - ORAI1

KW - Severe combined immunodeficiency

KW - Whole exome sequencing

UR - http://www.scopus.com/inward/record.url?scp=84973495989&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84973495989&partnerID=8YFLogxK

U2 - 10.1016/j.clim.2016.03.012

DO - 10.1016/j.clim.2016.03.012

M3 - Letter

C2 - 27063589

AN - SCOPUS:84973495989

SN - 1521-6616

VL - 166-167

SP - 100

EP - 102

JO - Clinical Immunology

JF - Clinical Immunology

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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