hrp0089rfc11.4 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018
Cuk Mario
, Lian Jayson
, Kahlfuss Sascha
, Kozhaya Lina
, Vaeth Martin
, Rieux-Laucat Frederic
, 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
Calcium signaling is fundamental to many cellular processes. An important pathway for increasing intracellular Ca2+ levels is store-operated Ca2+ entry (SOCE) regulated by stromal interaction molecule (STIM1-2), and Ca2+ channels formed by ORAI1-3 proteins. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. We present patients with Anhidrotic Ectodermal Dyspl...