Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.

Autor: de Vor IC; Department of Pediatrics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., van der Meulen PM; Department of Pediatrics, Medical Center Haaglanden, Lijnbaan 32, 2512 VA, The Hague, The Netherlands., Bekker V; Department of Pediatrics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., Verhard EM; Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., Breuning MH; Department of Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., Harnisch E; Department of Pediatrics, Medical Center Haaglanden, Lijnbaan 32, 2512 VA, The Hague, The Netherlands., van Tol MJ; Department of Pediatrics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., Wieringa JW; Department of Pediatrics, Medical Center Haaglanden, Lijnbaan 32, 2512 VA, The Hague, The Netherlands., van de Vosse E; Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., Bredius RG; Department of Pediatrics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. r.g.m.bredius@lumc.nl.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2016 Apr; Vol. 36 (3), pp. 195-203. Date of Electronic Publication: 2016 Mar 01.