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Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C

Journal Article published 12 Dec 2017 in Pediatric Allergy and Immunology volume 29 issue 1 on pages 108 to 111

Authors: Mikael Sundin, Michael Uhlin, Ahmed Gaballa, Kim Ramme, Antonios GA Kolios, Per Marits, Jakob Nilsson