title: Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.
authors.affiliation: Department of Paediatrics, University of Oxford, and the NIHR Oxford Biomedical Research Centre, Oxford, United Kingdom. Electronic address: johannes.trueck@kispi.uzh.ch.
authors.forename: Johannes
authors.initials: J
authors.lastname: Trück
authors.affiliation: Department of Paediatrics, University of Oxford, and the NIHR Oxford Biomedical Research Centre, Oxford, United Kingdom.
authors.forename: Dominic F
authors.initials: DF
authors.lastname: Kelly
authors.affiliation: Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, The Churchill Hospital, Headington, Oxford, United Kingdom.
authors.forename: John M
authors.initials: JM
authors.lastname: Taylor
authors.affiliation: Clinical Immunology Group, Oxford NIHR Biomedical Research Centre, United Kingdom.
authors.forename: Anne Kathrin
authors.initials: AK
authors.lastname: Kienzler
authors.affiliation: Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, The Churchill Hospital, Headington, Oxford, United Kingdom.
authors.forename: Tracy
authors.initials: T
authors.lastname: Lester
authors.affiliation: Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, The Churchill Hospital, Headington, Oxford, United Kingdom.
authors.forename: Anneke
authors.initials: A
authors.lastname: Seller
authors.affiliation: Department of Paediatrics, University of Oxford, and the NIHR Oxford Biomedical Research Centre, Oxford, United Kingdom.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Pollard
authors.affiliation: Clinical Immunology Group, Oxford NIHR Biomedical Research Centre, United Kingdom.
authors.forename: Smita Y
authors.initials: SY
authors.lastname: Patel
mesh_terms: D019731:Carbon-Nitrogen Ligases / Q000172:deficiency* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D035781:Siblings; D000073359:Exome Sequencing / Q000379:methods
chemical_list: D019731:Carbon-Nitrogen Ligases; C019951:CTP synthetase