Journal
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I
Volume 1238, Issue -, Pages 74-90Publisher
BLACKWELL SCIENCE PUBL
DOI: 10.1111/j.1749-6632.2011.06240.x
Keywords
immunodeficiency; T cells; CRAC channels; ORAI1; STIM1
Categories
Funding
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [R01AI066128] Funding Source: NIH RePORTER
- NIAID NIH HHS [R01 AI066128, AI066128] Funding Source: Medline
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Mutations in genes encoding the calcium-release activated calcium (CRAC) channel abolish calcium influx in cells of the immune system and cause severe congenital immunodeficiency. Patients with autosomal recessive mutations in the CRAC channel gene ORAI1, its activator stromal interaction molecule 1 (STIM1), and mice with targeted deletion of Orail, Stim1, and Stim2 genes reveal important roles for CRAC channels in adaptive and innate immune responses to infection and in autoimmunity. Because CRAG channels have important functions outside the immune system, deficiency of either ORAI1 or STIM1 is associated with a unique clinical phenotype. This review will give an overview of CRAC channel function in the immune system, examine the consequences of CRAC channel deficiency for immunity in human patients and mice, and discuss genetic defects in immunoreceptor-associated signaling molecules that compromise calcium influx and cause immunodeficiency.
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