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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
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Vedat Uygun,
Vedat Uygun
Istinye University Faculty of Medicine, Antalya, Turkey
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Nigel Sharfe,
Nigel Sharfe
The Hospital for Sick Children, Toronto, Ontario, Canada
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Serap Beldar,
Serap Beldar
Structural Genomics Consortium, University of Toronto, Toronto, Ontario, Canada
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Mark George Ford Sun,
Mark George Ford Sun
Oracle Therapeutics (Canada) Inc., Toronto, Ontario, Canada
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Harjit Dadi,
Harjit Dadi
The Hospital for Sick Children, Toronto, Ontario, Canada
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Linda Vong,
Linda Vong
The Hospital for Sick Children, Toronto, Ontario, Canada
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Michelle Maxson,
Michelle Maxson
Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Ontario, Canada
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Neslihan E. Karaca,
Neslihan E. Karaca
Ege University, Izmir, Turkey
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Süleyman Mevlitoğlu,
Süleyman Mevlitoğlu
Dolunay Pediatric Clinic, Antalya, Turkey
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Sergio Grinstein,
Sergio Grinstein
The Hospital for Sick Children, Toronto, Canada
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Reha Artan,
Reha Artan
Arkdeniz University Faculty of Medicine, Antalya, Turkey
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Daniele Merico,
Daniele Merico
Vevo Therapeutics, United States
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Chaim M Roifman
The Hospital for Sick Children, Toronto, Ontario, Canada
* Corresponding Author; email: chaim.roifman@sickkids.ca
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Blood blood.2022017968.
Article history
Submitted:
September 8, 2022
Revision Received:
January 17, 2023
Accepted:
January 29, 2023
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
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