Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.

Kento InoueSatoshi MiyamotoDan TomomasaEriko AdachiShohei AzumiYasuo HorikoshiTakashi IshiharaShinya OsoneYuta KawaharaKo KudoZenichiro KatoHidenori OhnishiKenichi KashimadaKohsuke ImaiOsamu OharaMenno C van ZelmMorton J CowanTomohiro MorioHirokazu Kanegane

Published in: Journal of clinical immunology (2022)

Large deletions were the most common genetic cause of ART-SCID in Japan. To improve HCT outcome, early diagnosis with newborn screening for SCID is urgently needed.

Keyphrases

genome wide
hiv infected
copy number