Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency
Author:
Funder
Ministry of Health, Labour and Welfare
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
http://link.springer.com/article/10.1007/s12185-019-02614-0/fulltext.html
Reference15 articles.
1. Hou YM. CCA addition to tRNA: implications for tRNA quality control. IUBMB Life. 2010;62(4):251–60.
2. Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, et al. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013;122(1):112–23.
3. Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, et al. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014;124(18):2867–71.
4. Barton C, Kausar S, Kerr D, Bitetti S, Wynn R. SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis. J Clin Pathol. 2018;71(3):275–8.
5. Lougaris V, Chou J, Baronio M, Gazzurelli L, Lorenzini T, Soresina A, et al. Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. Clin Immunol. 2018;188:20–2.
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