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- W147409441 abstract "Abstract Orai1 has recently been identified as a pore subunit of the Ca2+ release activated Ca2+ (CRAC) channel essential for the function of T lymphocytes, mast cells and other cells types. A point mutation in Orai1 abrogates CRAC channel function and causes Severe Combined Immunodeficiency (SCID) in human infants. We here report that the immunodeficiency is accompanied by hypohidrotic ectodermal dysplasia (HED) and congenital myopathy, characterized by absent sweat production, dysplastic dental enamel, non-progressive muscle weakness and histologically a predominance of type I and atrophic type II mucle fibers. A major defect in the activation of NF-kB, known to cause HED accompanied by immune deficiency in patients with mutations in IkBα or IKKγ, was ruled out, although a partial, Ca2+ dependent impairment of NF-kB activation downstream of TCR crosslinking was observed. An novel nonsense mutation in Orai1 was observed in an unrelated SCID patient causing a premature truncation of Orai1 protein. The resulting lack of Ca2+ influx and CRAC channel activity could be rescued by ectopic expression of Orai1 in the patient’s cells. The immunodeficiency in this patient is accompanied by fatal progressive growth retardation and encephalopathy, but HED and myopathy are absent. These clinical phenotypes indicate that Orai1 may not only be necessary for regulating Ca2+ influx in the immune system but also several other tissues." @default.
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- W147409441 date "2007-04-01" @default.
- W147409441 modified "2023-09-27" @default.
- W147409441 title "Novel mutations in CRAC channel protein Orai1 cause immunodeficiency associated with non-immunological disease (89.23)" @default.
- W147409441 doi "https://doi.org/10.4049/jimmunol.178.supp.89.23" @default.
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