Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay
Articolo
Data di Pubblicazione:
2018
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 SIFD
Combined B and T cell defects with hypogammaglobulinemia may be present in SIFD.
Hypertrophic cardiomyopathy may be present in SIFD
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
B cells; Hypogammaglobulinemia; T cells; TRNT1
Elenco autori:
Lougaris, Vassilios; Chou, Janet; Baronio, Manuela; Gazzurelli, Luisa; Lorenzini, Tiziana; Soresina, Annarosa; Moratto, Daniele; Badolato, Raffaele; Seleman, Michael; Bellettato, Massimo; Geha, Raif S; Plebani, Alessandro
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