title: Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood.
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.
authors.forename: Glynis
authors.initials: G
authors.lastname: Frans
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.
authors.forename: Leen
authors.initials: L
authors.lastname: Moens
authors.affiliation: Department of Microbiology and Immunology, Childhood Immunology, KU Leuven, Leuven, Belgium; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Heidi
authors.initials: H
authors.lastname: Schaballie
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.
authors.forename: Greet
authors.initials: G
authors.lastname: Wuyts
authors.affiliation: Department of Microbiology and Immunology, Autoimmune Genetics, KU Leuven and VIB, Leuven, Belgium.
authors.forename: Adrian
authors.initials: A
authors.lastname: Liston
authors.affiliation: Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Koen
authors.initials: K
authors.lastname: Poesen
authors.affiliation: Department of Hematology, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Ann
authors.initials: A
authors.lastname: Janssens
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Centre, Manchester, United Kingdom.
authors.forename: Gillian I
authors.initials: GI
authors.lastname: Rice
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Centre, Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
authors.affiliation: Department of Microbiology and Immunology, Childhood Immunology, KU Leuven, Leuven, Belgium; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meyts
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium; Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium. Electronic address: xavier.bossuyt@uzleuven.be.
authors.forename: Xavier
authors.initials: X
authors.lastname: Bossuyt
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology*; D018450:Disease Progression; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D008297:Male; D020125:Mutation, Missense; D009713:Nucleotidyltransferases / Q000235:genetics*; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D009713:Nucleotidyltransferases; C000610948:TRNT1 protein, human