Stray-Pedersen, Asbjørg; Sorte, Hanne Sørmo; Samarakoon, Pubudu Saneth; Gambin, Tomasz; Chinn, Ivan K.; Akdemir, Zeynep H.C.; Erichsen, Hans Christian; Forbes, Lisa R.; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N.; Muzny, Donna M.; Rødningen, Olaug Kristin; Sheng, Ying; Nicholas, S.; Noroski, Lenora M.; Seeborg, FO; Davis, Carla M.; Canter, Debra L.; Mace, Emily M.; Vece, Timothy J.; Allen, Carl E.; Abhyankar, Harshal A.; Boone, Philip M.; Beck, Christine R.; Wiszniewski, Wojciech; Fevang, Børre; Aukrust, Pål; Tjønnfjord, Geir Erland; Gedde-Dahl, Tobias Jr.; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordøy, Ingvild; Jørgensen, Silje Fjellgård; Abrahamsen, Tore G; Øverland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T. N.; Kulseth, Mari Ann; Prescott, Trine; Rustad, Cecilie; Heimdal, Ketil Riddervold; Belmont, John W.; Rider, Nicholas L.; Chinen, Javier; Cao, Tram N.; Smith, Eric A.; Caldirola, Maria Soledad; Flatø, Berit (Journal article / Tidsskriftartikkel / AcceptedVersion; Peer reviewed, 2017)
Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes ...