Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
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Key Points: SIFD is a syndromic form of congenital sideroblastic anemia associated with immunodeficiency, periodic fevers, and developmental delay. SIFD is due to partial loss-of-function mutations in the CCA-adding enzyme TRNT1.
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Among syndromic forms, the X-linked ABCB7 deficiency reduces export of Fe/S clusters to the cytosol, while others are associated with immunodeficiency, strengthening the need of Fe/S clusters in other cell types.
“Among syndromic forms, the X-linked ABCB7 deficiency reduces export of Fe/S clusters to the cytosol,91 while others are associated with immunodeficiency92 strengthening the need of Fe/S clusters in other cell types (Table 1).”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [92]
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- Authors
- Chakraborty, P. K., Schmitz-Abe, K., Kennedy, E. K., Mamady, H., Naas, T., Durie, D., Campagna, D. R., Lau, A., Sendamarai, A. K., Wiseman, D. H., May, A., Jolles, S., Connor, P., Powell, C., Heeney, M. M., Giardina, P.-J., Klaassen, R. J., Kannengiesser, C., Thuret, I., Thompson, A. A., Marques, L., Hughes, S., Bonney, D. K., Bottomley, S. S., Wynn, R. F., Laxer, R. M., Minniti, C. P., Moppett, J., Bordon, V., Geraghty, M., Joyce, P. B. M., Markianos, K., Rudner, A. D., Holcik, M., & Fleming, M. D.
- Affiliations
- University of Ottawa (CA)
- Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA;
- Boston Children's Hospital (US)
- Royal Manchester Children's Hospital (GB)
- Cardiff University (GB)
- University Hospital of Wales (GB)
- Department of Paediatrics, Children’s Hospital for Wales, Cardiff, United Kingdom;
- Dana-Farber/Boston Children's Cancer and Blood Disorders Center (US)
- Children's Cancer and Blood Foundation (US)
- Inserm (FR)
- Hôpital de la Timone (FR)
- Northwestern University (US)
- Centro Hospitalar do Porto (PT)
- University of Oklahoma (US)
- University of Toronto (CA)
- National Institutes of Health (US)
- Bristol Royal Hospital for Children (GB)
- Ghent University Hospital (BE)
- Concordia University (CA)
- Molecular Biomedicine Program, Children's Hospital of Eastern Ontario Research Institute, Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada
- ORCID
- Chakraborty, Pranesh K.
- Campagna, Dean R.
- Sendamarai, Anoop K.
- Wiseman, Daniel H.
- Jolles, Stephen
- Connor, Philip
- Powell, Colin
- Heeney, Matthew M.
- Klaassen, Robert J.
- Kannengiesser, Caroline
- Thompson, Alexis A.
- Hughes, Stephen
- Bottomley, Sylvia S.
- Wynn, Robert F.
- Laxer, Ronald M.
- Minniti, Caterina P.
- Moppett, John
- Bordon, Victoria
- Geraghty, Michael
- Joyce, Paul B. M.
- Markianos, Kyriacos
- Rudner, Adam D.
- Fleming, Mark D.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2014-10-30
- Volume
- 124
- Issue
- 18
- Pages
- 2867-2871
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- PMC
- PMC4215314
- OpenAlex
- W1981093010
- Cited by
- 190
- References
- 0
- Citations by year
- 2026: 11 · 2025: 11 · 2024: 5 · 2023: 10 · 2022: 9 · 2021: 17 · 2020: 17 · 2019: 25 · 2018: 20 · 2017: 19 · 2016: 24 · 2015: 21 · 2014: 1
- FWCI
- 15.37
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Funders
- Ohio State University
- University of Washington
- University of Ottawa
- National Institute for Social Care and Health Research
- Cancer Research Society
- National Institutes of Health
- Canadian Institutes of Health Research
- Natural Sciences and Engineering Research Council of Canada
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK087992)
- Topics
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Keywords
- congenital sideroblastic anemia, CCA-adding enzyme, iron-sulfur cluster assembly, mitochondrial translation, B-cell immunodeficiency, periodic fever, developmental delay, loss-of-function mutations, CCA1, Saccharomyces cerevisiae, pleiotropy
- MeSH terms
- Alleles, Anemia, Sideroblastic, Developmental Disabilities, Fever, Humans, Immunologic Deficiency Syndromes, Mutation, RNA Nucleotidyltransferases, Genetic Diseases, X-Linked, HEK293 Cells
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