A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism by Netter, Petra, PhD, Chan, Sanny K., MD, PhD, Banerjee, Pinaki P., PhD, Monaco-Shawver, Linda, BS, Noroski, Lenora M., MD, MPH, Hanson, Imelda C., MD, Forbes, Lisa R., MD, Mace, Emily M., PhD, Chinen, Javier, MD, PhD, Gaspar, H. Bobby, PhD, Sleiman, Patrick, PhD, Hakonarson, Hakon, MD, PhD, Klein, Christoph, MD, PhD, Ehlayel, Mohammad S., MD, Orange, Jordan S., MD, PhD

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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders by Stray-Pedersen, Asbjørg, MD, PhD, Sorte, Hanne Sørmo, MS, Samarakoon, Pubudu, MS, Gambin, Tomasz, PhD, Chinn, Ivan K., MD, Coban Akdemir, Zeynep H., PhD, Erichsen, Hans Christian, MD, PhD, Forbes, Lisa R., MD, Gu, Shen, PhD, Yuan, Bo, PhD, Jhangiani, Shalini N., MS, Muzny, Donna M., MS, Rødningen, Olaug Kristin, PhD, Sheng, Ying, PhD, Nicholas, Sarah K., MD, PhD, Noroski, Lenora M., MD, MPH, Seeborg, Filiz O., MD, MPH, Davis, Carla M., MD, Canter, Debra L., MS, Mace, Emily M., PhD, Vece, Timothy J., MD, Allen, Carl E., MD, PhD, Abhyankar, Harshal A., MS, Boone, Philip M., MD, PhD, Beck, Christine R., PhD, Wiszniewski, Wojciech, MD, PhD, Fevang, Børre, MD, PhD, Aukrust, Pål, MD, PhD, Tjønnfjord, Geir E., MD, PhD, Gedde-Dahl, Tobias, MD, PhD, Hjorth-Hansen, Henrik, MD, PhD, Dybedal, Ingunn, MD, PhD, Nordøy, Ingvild, MD, PhD, Jørgensen, Silje F., MD, Abrahamsen, Tore G., MD, PhD, Øverland, Torstein, MD, Bechensteen, Anne Grete, MD, PhD, Skogen, Vegard, MD, PhD, Osnes, Liv T.N., MD, PhD, Kulseth, Mari Ann, PhD, Prescott, Trine E., MD, Rustad, Cecilie F., MD, Heimdal, Ketil R., MD, PhD, Belmont, John W., MD, PhD, Rider, Nicholas L., DO, Chinen, Javier, MD, PhD, Cao, Tram N., MS, Smith, Eric A., BSc, Caldirola, Maria Soledad, BSc, Bezrodnik, Liliana, MD, Lugo Reyes, Saul Oswaldo, MD, Espinosa Rosales, Francisco J., MD, Guerrero-Cursaru, Nina Denisse, BSc, Pedroza, Luis Alberto, PhD, Poli, Cecilia M., MD, Franco, Jose L., MD, PhD, Trujillo Vargas, Claudia M., PhD, Aldave Becerra, Juan Carlos, MD, Wright, Nicola, MD, Issekutz, Thomas B., MD, Issekutz, Andrew C., MD, Abbott, Jordan, MD, Caldwell, Jason W., DO, Bayer, Diana K., DO, Chan, Alice Y., MD, PhD, Aiuti, Alessandro, MD, PhD, Cancrini, Caterina, MD, PhD, Holmberg, Eva, MD, West, Christina, MD, PhD, Burstedt, Magnus, MD, PhD, Karaca, Ender, MD, Yesil, Gözde, MD, Artac, Hasibe, MD, Bayram, Yavuz, MD, Atik, Mehmed Musa, BSc, Eldomery, Mohammad K., MD, Ehlayel, Mohammad S., MD, PhD, Jolles, Stephen, MD, PhD, Flatø, Berit, MD, PhD, Bertuch, Alison A., MD, PhD, Hanson, I. Celine, MD, Zhang, Victor W., PhD, Wong, Lee-Jun, PhD, Hu, Jianhong, PhD, Walkiewicz, Magdalena, PhD, Yang, Yaping, PhD, Eng, Christine M., MD, Boerwinkle, Eric, PhD, Gibbs, Richard A., PhD, Shearer, William T., MD, PhD, Lyle, Robert, PhD, Orange, Jordan S., MD, PhD, Lupski, James R., MD, PhD, DSc (Hon)

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Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor β1 deficiency and ataxia-telangiectasia by Ehlayel, Mohammad, MD, de Beaucoudrey, Ludovic, MSc, Fike, Francesca, BSc, Nahas, Shareef A., PhD, Feinberg, Jacqueline, PhD, Casanova, Jean-Laurent, MD, PhD, Gatti, Richard A., MD

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