Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay

Publication date: Available online 21 November 2017
Source:Clinical Immunology
Author(s): Vassilios Lougaris, Janet Chou, Manuela Baronio, Luisa Gazzurelli, Tiziana Lorenzini, Annarosa Soresina, Daniele Moratto, Raffaele Badolato, Michael Seleman, Massimo Bellettato, Raif S. Geha, Alessandro Plebani




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