Article
ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
The Journal of allergy and clinical immunology - 1 Oct 2018
Lian Jayson, Cuk Mario, Kahlfuss Sascha, Kozhaya Lina, Vaeth Martin, Rieux-Laucat Frédéric, Picard Capucine, Benson Melina J, Jakovcevic Antonia, Bilic Karmen, Martinac Iva, Stathopulos Peter, Kacskovics Imre, Vraetz Thomas, Speckmann Carsten, Ehl Stephan, Issekutz Thomas, Unutmaz Derya, Feske Stefan
Abstract excerpt
BACKGROUND: Store-operated Ca2+ entry (SOCE) through Ca2+ release-activated Ca2+ channels is an essential signaling pathway in many cell types. Ca2+ release-activated Ca2+ channels are formed by ORAI1, ORAI2, and ORAI3 proteins and activated by stromal interaction molecule (STIM) 1 and STIM2. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is...
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