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SIFD is due to partial loss-of-function mutations in the CCA-adding enzyme TRNT1.<\/jats:p>","DOI":"10.1182\/blood-2014-08-591370","type":"journal-article","created":{"date-parts":[[2014,9,6]],"date-time":"2014-09-06T07:27:04Z","timestamp":1409988424000},"page":"2867-2871","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":170,"title":["Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)"],"prefix":"10.1182","volume":"124","author":[{"given":"Pranesh K.","family":"Chakraborty","sequence":"first","affiliation":[{"name":"Newborn Screening Ontario, Department of Pediatrics, Children\u2019s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada;"}]},{"given":"Klaus","family":"Schmitz-Abe","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA;"}]},{"given":"Erin K.","family":"Kennedy","sequence":"additional","affiliation":[{"name":"Ottawa Institute of Systems Biology and BMI, University of Ottawa, Ottawa, ON, Canada;"}]},{"given":"Hapsatou","family":"Mamady","sequence":"additional","affiliation":[{"name":"Newborn Screening Ontario, Department of Pediatrics, Children\u2019s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada;"}]},{"given":"Turaya","family":"Naas","sequence":"additional","affiliation":[{"name":"Newborn Screening Ontario, Department of Pediatrics, Children\u2019s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada;"}]},{"given":"Danielle","family":"Durie","sequence":"additional","affiliation":[{"name":"Newborn Screening Ontario, Department of Pediatrics, Children\u2019s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada;"}]},{"given":"Dean R.","family":"Campagna","sequence":"additional","affiliation":[{"name":"Department of Pathology, Boston Children's Hospital, Boston, MA;"}]},{"given":"Ashley","family":"Lau","sequence":"additional","affiliation":[{"name":"Department of Pathology, Boston Children's Hospital, Boston, MA;"}]},{"given":"Anoop K.","family":"Sendamarai","sequence":"additional","affiliation":[{"name":"Department of Pathology, Boston Children's Hospital, Boston, MA;"}]},{"given":"Daniel H.","family":"Wiseman","sequence":"additional","affiliation":[{"name":"Department of Haematology, Royal Manchester Children\u2019s Hospital, Manchester, United Kingdom;"}]},{"given":"Alison","family":"May","sequence":"additional","affiliation":[{"name":"Department of Haematology, Cardiff University School of Medicine, Cardiff, United Kingdom;"}]},{"given":"Stephen","family":"Jolles","sequence":"additional","affiliation":[{"name":"Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom;"}]},{"given":"Philip","family":"Connor","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Children\u2019s Hospital for Wales, Cardiff, United Kingdom;"}]},{"given":"Colin","family":"Powell","sequence":"additional","affiliation":[{"name":"Department of Child Health, Institute of Molecular and Experimental Medicine, School of Medicine, Cardiff University, Children\u2019s Hospital for Wales, Cardiff, United Kingdom;"}]},{"given":"Matthew M.","family":"Heeney","sequence":"additional","affiliation":[{"name":"Dana-Farber\/Boston Children\u2019s Cancer and Blood Disorders Center, Boston, MA;"}]},{"given":"Patricia-Jane","family":"Giardina","sequence":"additional","affiliation":[{"name":"Division of Hematology-Oncology, Children\u2019s Cancer and Blood Foundation Laboratories, Weill Cornell Medical College, New York, NY;"}]},{"given":"Robert J.","family":"Klaassen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada;"}]},{"given":"Caroline","family":"Kannengiesser","sequence":"additional","affiliation":[{"name":"INSERM UMR773, Universit\u00e9 Paris Diderot, Assistance Publique des Hospitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Xavier Bichat, Paris, France;"}]},{"given":"Isabelle","family":"Thuret","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, H\u00f4pital de la Timone, Marseille, France;"}]},{"given":"Alexis A.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Northwestern University Feinberg School of Medicine, Ann & Robert H. 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