Literature DB >> 29170023

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

Vassilios Lougaris1, Janet Chou2, Manuela Baronio3, Luisa Gazzurelli3, Tiziana Lorenzini3, Annarosa Soresina4, Daniele Moratto5, Raffaele Badolato3, Michael Seleman2, Massimo Bellettato6, Raif S Geha2, Alessandro Plebani3.   

Abstract

Entities:  

Keywords:  B cells; Hypogammaglobulinemia; T cells; TRNT1

Mesh：

Substances：

Year:  2017        PMID： 29170023     DOI： 10.1016/j.clim.2017.11.008

Source DB:  PubMed          Journal:  Clin Immunol        ISSN： 1521-6616            Impact factor:   3.969


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  6 in total

Review 1.  Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors:  Ivona Aksentijevich; Oskar Schnappauf
Journal:  Nat Rev Rheumatol       Date:  2021-05-25       Impact factor: 20.543

Review 2.  Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.

Authors:  Ilaria Maccora; Athimalaipet V Ramanan; Daniel Wiseman; Edoardo Marrani; Maria V Mastrolia; Gabriele Simonini
Journal:  J Clin Immunol       Date:  2022-08-19       Impact factor: 8.542

Review 3.  Diseases Associated with Defects in tRNA CCA Addition.

Authors:  Angelo Slade; Ribal Kattini; Chloe Campbell; Martin Holcik
Journal:  Int J Mol Sci       Date:  2020-05-27       Impact factor: 5.923

Review 4.  Mitochondrial DNA transcription and translation: clinical syndromes.

Authors:  Veronika Boczonadi; Giulia Ricci; Rita Horvath
Journal:  Essays Biochem       Date:  2018-07-20       Impact factor: 8.000

Review 5.  Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.

Authors:  David B Beck; Ivona Aksentijevich
Journal:  Front Immunol       Date:  2019-01-31       Impact factor: 7.561

6.  Recurrent pneumonia in a patient with new coronavirus infection after discharge from hospital for insufficient antibody production: a case report.

Authors:  Xiaoxi Zhou; Jianfeng Zhou; Jianping Zhao
Journal:  BMC Infect Dis       Date:  2020-07-11       Impact factor: 3.090
  6 in total

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