Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood.
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Y. Crow | A. Liston | G. Rice | I. Meyts | X. Bossuyt | K. Poesen | A. Janssens | Leen Moens | G. Wuyts | G. Frans | H. Schaballie
[1] Y. Crow,et al. Aicardi–Goutières syndrome and the type I interferonopathies , 2015, Nature Reviews Immunology.
[2] J. Orange,et al. Practical NK cell phenotyping and variability in healthy adults , 2015, Immunologic Research.
[3] E. Shoubridge,et al. The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. , 2015, Human molecular genetics.
[4] M. Gadina,et al. A2.35 TRNT1 missense mutations define a new periodic fever syndrome , 2015 .
[5] Erin K. Kennedy,et al. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). , 2014, Blood.
[6] E. Deenick,et al. Human T follicular helper (Tfh) cells and disease , 2014, Immunology and cell biology.
[7] P. J. Hanic-Joyce,et al. The ability of an arginine to tryptophan substitution in Saccharomyces cerevisiae tRNA nucleotidyltransferase to alleviate a temperature-sensitive phenotype suggests a role for motif C in active site organization. , 2013, Biochimica et biophysica acta.
[8] J. Orange. Natural killer cell deficiency. , 2013, The Journal of allergy and clinical immunology.
[9] M. Fleming,et al. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). , 2013, Blood.
[10] J. Casanova,et al. Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. , 2012, The Journal of clinical investigation.
[11] J. Liese,et al. Reference values for B cell subpopulations from infancy to adulthood , 2010, Clinical and experimental immunology.
[12] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[13] Ya-Ming Hou,et al. CCA addition to tRNA: Implications for tRNA quality control , 2010, IUBMB life.
[14] A. Schäffer,et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. , 2010, The Journal of allergy and clinical immunology.
[15] E. Andrès,et al. CD56bright natural killer (NK) cells: an important NK cell subset , 2009, Immunology.
[16] R de Groot,et al. Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations. , 1997, The Journal of pediatrics.
[17] Adam P. DeLuca,et al. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. , 2016, Human molecular genetics.
[18] Eren,et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. , 2008, Blood.