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

^*المؤلف المقابل لهذا العمل

Child Health

نتاج البحث: المساهمة في مجلة › Letter › مراجعة النظراء

13 اقتباسات (Scopus)

ملخص

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.

اللغة الأصلية	English
الصفحات (من إلى)	100-102
عدد الصفحات	3
دورية	Clinical Immunology
مستوى الصوت	166-167
المعرِّفات الرقمية للأشياء	https://doi.org/10.1016/j.clim.2016.03.012
حالة النشر	Published - مايو 1 2016

ASJC Scopus subject areas

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الوصول إلى المستند

10.1016/j.clim.2016.03.012

الملفات والروابط الأخرى

قم بذكر هذا

Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1. / Badran, Yousef R.; Massaad, Michel J.; Bainter, Wayne وآخرون.
في: Clinical Immunology, المجلد 166-167, ٠١.٠٥.٢٠١٦, صفحة 100-102.

نتاج البحث: المساهمة في مجلة › Letter › مراجعة النظراء

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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",

note = "Publisher Copyright: {\textcopyright} 2016 Elsevier Inc.",

year = "2016",

month = may,

day = "1",

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

language = "English",

volume = "166-167",

pages = "100--102",

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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

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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

ملخص

ASJC Scopus subject areas

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