We report two novel biallelic mutations in TRNT1 in the enzyme’s active site causing SIFD. Combined B and T cell defects with hypogammaglobulinemia may be present in SIFD. Hypertrophic cardiomyopathy may be present in SIFD
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay
Lougaris, Vassilios
;Baronio, Manuela;Gazzurelli, Luisa;Lorenzini, Tiziana;Moratto, Daniele;Badolato, Raffaele;Plebani, Alessandro
2018-01-01
Abstract
We report two novel biallelic mutations in TRNT1 in the enzyme’s active site causing SIFD. Combined B and T cell defects with hypogammaglobulinemia may be present in SIFD. Hypertrophic cardiomyopathy may be present in SIFDFile in questo prodotto:
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