Calcium Channel Defects (STIM1 and ORAI1)

Yee, Christina

doi:10.1007/978-1-4614-9209-2_176-1

Calcium Channel Defects (STIM1 and ORAI1)

Christina Yee³

Living reference work entry
First Online: 28 March 2019

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Synonyms

CRAC channelopathy; ORAI1 deficiency; STIM1 deficiency

Introduction/Background

Calcium channel defects are rare syndromic immune deficiencies in which defective store-operated calcium release leads to severely impaired activation of T lymphocytes and natural killer (NK) cells. This syndrome, also known as CRAC channelopathy, results from inherited mutations in ORAI1 (ORAI Calcium Release-Activated Calcium Modulator 1) or STIM1 (Stromal Interaction Molecule 1) and is characterized by combined immune deficiency, autoimmunity, myopathy, and ectodermal dysplasia. While affected patients may have preserved T cell numbers and proliferation studies, T cell activation and function of cytolytic effectors and regulatory T cells are severely impaired. The immune phenotype includes combined immune deficiency with recurrent bacterial and viral infections, as well as autoimmune cytopenias and viral-associated lymphoproliferation. Relatively more severe immune impairment is associated with...

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References

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Authors and Affiliations

Division of Immunology, Boston Children’s Hospital & Harvard Medical School, Boston, MA, USA
Christina Yee

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Christina Yee
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Correspondence to Christina Yee .

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Editors and Affiliations

Molecular Biology, Monash University Dept. Biochemistry &, Clayton, VIC, Australia
Ian MacKay
Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Noel R. Rose

Section Editor information

USF Health, Tampa, Florida, USA
Jolan Walter

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Yee, C. (2019). Calcium Channel Defects (STIM1 and ORAI1). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_176-1

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DOI: https://doi.org/10.1007/978-1-4614-9209-2_176-1
Received: 24 February 2019
Accepted: 25 February 2019
Published: 28 March 2019
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-9209-2
Online ISBN: 978-1-4614-9209-2
eBook Packages: Springer Reference MedicineReference Module Medicine

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