| 1 | IMD9, ORAI1 |
| ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. | |
| McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K, Ehl S, Notheis G, Albert MH, Belohradsky BH, Kirschner J, Rao A, Fischer A, Feske S. | |
| J Allergy Clin Immunol 124(6):1311-1318.e7. doi: 10.1016/j.jaci.2009.10.007. 2009 | |
| 2 | IMD9, ORAI1 |
| A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. | |
| Feske S, Gwack Y, Prakriya M, Srikanth S, Puppel SH, Tanasa B, Hogan PG, Lewis RS, Daly M, Rao A. | |
| Nature 441(7090):179-85. Epub 2006 Apr 2. 2006 | |