Novel immunodeficiency caused by homozygous mutation in <i>SLC19A1</i> encoding the reduced folate carrier

Letter to Blood| June 29, 2023 Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier Akira Shiraishi, Akira Shiraishi 1Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada2Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan https://orcid.org/0000-0003-2184-3587 Search for other works by this author on: This Site PubMed Google Scholar Vedat Uygun, Vedat Uygun 3Pediatric Bone Marrow Transplantation Unit, Istinye University Faculty of Medicine, Medical Park Antalya Hospital, Antalya, Turkey https://orcid.org/0000-0003-3257-7798 Search for other works by this author on: This Site PubMed Google Scholar Nigel Sharfe, Nigel Sharfe 1Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada4Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada Search for other works by this author on: This Site PubMed Google Scholar Serap Beldar, Serap Beldar 5Structural Genomics Consortium, University of Toronto, Toronto, ON, Canada Search for other works by this author on: This Site PubMed Google Scholar Mark G. F. Sun, Mark G. F. Sun 6Oracle Therapeutics (Canada) Inc, Toronto, ON, Canada Search for other works by this author on: This Site PubMed Google Scholar Harjit Dadi, Harjit Dadi 1Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada4Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada Search for other works by this author on: This Site PubMed Google Scholar Linda Vong, Linda Vong 1Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada4Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada Search for other works by this author on: This Site PubMed Google Scholar Michelle Maxson, Michelle Maxson 7Program in Cell Biology, Peter Gilgan Centre for Research and Learning, Hospital for Sick Children, Toronto, ON, Canada8Department of Biochemistry, University of Toronto, Toronto, ON, Canada https://orcid.org/0000-0002-1493-490X Search for other works by this author on: This Site PubMed Google Scholar Neslihan E. Karaca, Neslihan E. Karaca 9Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey Search for other works by this author on: This Site PubMed Google Scholar Süleyman Mevlitoğlu, Süleyman Mevlitoğlu 10Dolunay Pediatric Clinic, Muratpasa, Antalya, Turkey Search for other works by this author on: This Site PubMed Google Scholar Sergio Grinstein, Sergio Grinstein 7Program in Cell Biology, Peter Gilgan Centre for Research and Learning, Hospital for Sick Children, Toronto, ON, Canada8Department of Biochemistry, University of Toronto, Toronto, ON, Canada https://orcid.org/0000-0002-0795-4160 Search for other works by this author on: This Site PubMed Google Scholar Reha Artan, Reha Artan 11Department of Pediatric Gastroenterology, Akdeniz University Faculty of Medicine, Antalya, Turkey https://orcid.org/0000-0001-6114-9210 Search for other works by this author on: This Site PubMed Google Scholar Daniele Merico, Daniele Merico 12Vevo Therapeutics, San Francisco, CA13The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON, Canada https://orcid.org/0000-0002-3728-4401 Search for other works by this author on: This Site PubMed Google Scholar Chaim M. Roifman Chaim M. Roifman 1Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada4Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada Search for other works by this author on: This Site PubMed Google Scholar Blood (2023) 141 (26): 3226–3230. https://doi.org/10.1182/blood.2022017968 Article history Submitted: September 8, 2022 Accepted: January 29, 2023 First Edition: February 6, 2023 Share Icon Share Facebook Twitter LinkedIn Email Tools Icon Tools Request Permissions Cite Icon Cite Search Site Citation Akira Shiraishi, Vedat Uygun, Nigel Sharfe, Serap Beldar, Mark G. F. Sun, Harjit Dadi, Linda Vong, Michelle Maxson, Neslihan E. Karaca, Süleyman Mevlitoğlu, Sergio Grinstein, Reha Artan, Daniele Merico, Chaim M. Roifman; Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier. Blood 2023; 141 (26): 3226–3230. doi: https://doi.org/10.1182/blood.2022017968 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentAll JournalsBlood Search Subjects: Immunobiology and Immunotherapy TO THE EDITOR: Primary immunodeficiency diseases, including severe combined immunodeficiency (SCID) and combined immunodeficiency (CID), are monogenic disorders with a wide spectrum of clinical phenotypes including immune dysregulation, autoimmunity, inflammation, and malignancy.1 Manifestations may vary depending on whether the defect is localized to the immune system or its expression overlaps with other organ systems. Genetic aberrations affecting metabolic pathways, such as the coenzyme folate, can lead to immunodeficiency.2,3 SCID has previously been reported in patients with MTHFD1 deficiency, encoding a key enzyme in the folate pathway.2,4 Folates are essential for the synthesis of purine and pyrimidines during DNA and RNA synthesis and are cofactors for tissue growth and development.5,6 Folate uptake in humans is dependent on 2 transporters: the ubiquitously expressed reduced folate carrier (RFC) encoded by solute carrier family 19... References 1.Roifman CM. Primary T-cell immunodeficiencies. In: Rich R, eds. Clinical Immunology: Principles and Practice. Fifth Edition. Elsevier Health Sciences; 2018:489-508.Google Scholar 2.Burda P, Kuster A, Hjalmarson O, et al. Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. J Inherit Metab Dis. 2015;38(5):863-872.Google ScholarCrossrefSearch ADS 3.Tan J, Li X, Guo Y, et al. Hereditary folate malabsorption with a novel mutation on SLC46A1. Medicine. 2017;96(50):e8712.Google ScholarCrossrefSearch ADS PubMed 4.Watkins D, Schwartzentruber JA, Ganesh J, et al. Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. J Med Genet. 2011;48(9):590-592.Google ScholarCrossrefSearch ADS 5.Czeizel AE, Dudas I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med. 1992;327(26):1832-1835.Google ScholarCrossrefSearch ADS 6.Crider KS, Yang TP, Berry RJ, Bailey LB. Folate and DNA methylation: a review of molecular mechanisms and the evidence for folate's role. Adv Nutr. 2012;3(1):21-38.Google ScholarCrossrefSearch ADS PubMed 7.Zhao R, Min SH, Qiu A, et al. The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. Blood. 2007;110(4):1147-1152.Google ScholarCrossrefSearch ADS PubMed 8.Malatack JJ, Moran MM, Moughan B. Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect. Pediatrics. 1999;104(5 Pt 1):1133-1137.Google ScholarPubMed 9.Svaton M, Skvarova Kramarzova K, Kanderova V, et al. A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia. Blood. 2020;135(26):2427-2431.Google ScholarCrossrefSearch ADS PubMed 10.De Bruyn E, Gulbis B, Cotton F. Serum and red blood cell folate testing for folate deficiency: new features?. Eur J Haematol. 2014;92(4):354-359.Google ScholarCrossrefSearch ADS PubMed 11.Hou Z, Matherly LH. Biology of the major facilitative folate transporters SLC19A1 and SLC46A1. Curr Top Membr. 2014;73:175-204.Google ScholarCrossrefSearch ADS PubMed 12.Luteijn RD, Zaver SA, Gowen BG, et al. SLC19A1 transports immunoreactive cyclic dinucleotides. Nature. 2019;573(7774):434-438.Google ScholarCrossrefSearch ADS PubMed 13.Reva B, Antipin Y, Sander C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res. 2011;39(17):e118.Google ScholarCrossrefSearch ADS PubMed 14.Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001;11(5):863-874.Google ScholarCrossrefSearch ADS PubMed 15.Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248-249.Google ScholarCrossrefSearch ADS PubMed 16.Yang J, Anishchenko I, Park H, Peng Z, Ovchinnikov S, Baker D. Improved protein structure prediction using predicted interresidue orientations. Proc Natl Acad Sci U S A. 2020;117(3):1496-1503.Google ScholarCrossrefSearch ADS PubMed 17.Ishikawa H, Barber GN. STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling. Nature. 2008;455(7213):674-678.Google ScholarCrossrefSearch ADS PubMed 18.Konno H, Konno K, Barber GN. Cyclic dinucleotides trigger ULK1 (ATG1) phosphorylation of STING to prevent sustained innate immune signaling. Cell. 2013;155(3):688-698.Google ScholarCrossrefSearch ADS PubMed 19.Gutjahr A, Papagno L, Nicoli F, et al. The STING ligand cGAMP potentiates the efficacy of vaccine-induced CD8+ T cells. JCI Insight. 2019;4(7):e125107.Google ScholarCrossrefSearch ADS PubMed 20.Evans JG, Chavez-Rueda KA, Eddaoudi A, et al. Novel suppressive function of transitional 2 B cells in experimental arthritis. J Immunol. 2007;178(12):7868-7878.Google ScholarCrossrefSearch ADS 21.Gelineau-van Waes J, Heller S, Bauer LK, et al. Embryonic development in the reduced folate carrier knockout mouse is modulated by maternal folate supplementation. Birth Defects Res A Clin Mol Teratol. 2008;82(7):494-507.Google ScholarCrossrefSearch ADS PubMed © 2023 by The American Society of Hematology2023 © 2023 by The American Society of Hematology2023 You do not currently have access to this content. Sign in via your Institution

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