Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene

Author:

Kuijpers Taco W.12ORCID,de Vries Andrica C. H.3,van Leeuwen Ester M.45,Ermens A.(Ton) A. M.6,de Pont Saskia7,Smith Desirée E. C.8,Wamelink Mirjam M. C.8ORCID,Mensenkamp Arjen R.9ORCID,Nelen Marcel R.9,Lango Allen Hana1011ORCID,Pals Steven T.12,Beverloo Berna H. B.13,Huidekoper Hidde H.13ORCID,Wagner Anja14

Affiliation:

1. 1Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children’s Hospital, Amsterdam University Medical Center (UMC), location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

2. 2Department of Blood Cell Research, Sanquin, University of Amsterdam, Amsterdam, The Netherlands

3. 3Department of Pediatric Oncology, Erasmus MC Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands

4. 4Department of Experimental Immunology (EXIM), Amsterdam UMC, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

5. 5Laboratory of Immunology, AUMC, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

6. 6Department of Clinical Chemistry, Amphia Hospital, Breda, The Netherlands

7. 7Department of Pediatrics, Amphia Hospital, Breda, The Netherlands

8. 8Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Center, location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands

9. 9Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands

10. 10MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom

11. 11Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom

12. 12Department of Pathology, Amsterdam UMC, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

13. 13Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands

14. 14Department of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, The Netherlands

Publisher

American Society of Hematology

Subject

Hematology

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