Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier

Abstract

Letter| February 6, 2023 Novel immunodeficiency caused by homozygous mutation in SLC19A1 encoding the reduced folate carrier Akira Shiraishi, Akira Shiraishi Hospital for Sick Children, Canada https://orcid.org/0000-0003-2184-3587 Search for other works by this author on: This Site PubMed Google Scholar Vedat Uygun, Vedat Uygun Istinye University Faculty of Medicine, 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 The Hospital for Sick Children, Toronto, Ontario, Canada Search for other works by this author on: This Site PubMed Google Scholar Serap Beldar, Serap Beldar Structural Genomics Consortium, University of Toronto, Toronto, Ontario, Canada Search for other works by this author on: This Site PubMed Google Scholar Mark George Ford Sun, Mark George Ford Sun Oracle Therapeutics (Canada) Inc., Toronto, Ontario, Canada Search for other works by this author on: This Site PubMed Google Scholar Harjit Dadi, Harjit Dadi The Hospital for Sick Children, Toronto, Ontario, Canada Search for other works by this author on: This Site PubMed Google Scholar Linda Vong, Linda Vong The Hospital for Sick Children, Toronto, Ontario, Canada Search for other works by this author on: This Site PubMed Google Scholar Michelle Maxson, Michelle Maxson Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Ontario, 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 Ege University, Izmir, Turkey Search for other works by this author on: This Site PubMed Google Scholar Süleyman Mevlitoğlu, Süleyman Mevlitoğlu Dolunay Pediatric Clinic, Antalya, Turkey Search for other works by this author on: This Site PubMed Google Scholar Sergio Grinstein, Sergio Grinstein The Hospital for Sick Children, Toronto, 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 Arkdeniz 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 Vevo Therapeutics, United States 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 The Hospital for Sick Children, Toronto, Ontario, Canada * Corresponding Author; email: chaim.roifman@sickkids.ca Search for other works by this author on: This Site PubMed Google Scholar Blood blood.2022017968. https://doi.org/10.1182/blood.2022017968 Article history Submitted: September 8, 2022 Revision Received: January 17, 2023 Accepted: January 29, 2023 Share Icon Share Facebook Twitter LinkedIn MailTo Tools Icon Tools Request Permissions Cite Icon Cite Search Site Citation Akira Shiraishi, Vedat Uygun, Nigel Sharfe, Serap Beldar, Mark George Ford 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 SLC19A1 encoding the reduced folate carrier. Blood 2023; blood.2022017968. 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 This content is only available as a PDF. Copyright © 2023 American Society of Hematology2023 Article PDF first page preview Close Modal You do not currently have access to this content. Sign in via your Institution