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

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Title: Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.
Authors: Shiraishi A; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Uygun V; Pediatric Bone Marrow Transplantation Unit, Istinye University Faculty of Medicine, Medical Park Antalya Hospital, Antalya, Turkey., Sharfe N; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada., Beldar S; Structural Genomics Consortium, University of Toronto, Toronto, ON, Canada., Sun MGF; Oracle Therapeutics (Canada) Inc, Toronto, ON, Canada., Dadi H; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada., Vong L; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada., Maxson M; Program in Cell Biology, Peter Gilgan Centre for Research and Learning, Hospital for Sick Children, Toronto, ON, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON, Canada., Karaca NE; Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey., Mevlitoğlu S; Dolunay Pediatric Clinic, Muratpasa, Antalya, Turkey., Grinstein S; Program in Cell Biology, Peter Gilgan Centre for Research and Learning, Hospital for Sick Children, Toronto, ON, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON, Canada., Artan R; Department of Pediatric Gastroenterology, Akdeniz University Faculty of Medicine, Antalya, Turkey., Merico D; Vevo Therapeutics, San Francisco, CA.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON, Canada., Roifman CM; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada.
Source: Blood [Blood] 2023 Jun 29; Vol. 141 (26), pp. 3226-3230.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.
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  Data: <searchLink fieldCode="AU" term="%22Shiraishi+A%22">Shiraishi A</searchLink>; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Uygun+V%22">Uygun V</searchLink>; Pediatric Bone Marrow Transplantation Unit, Istinye University Faculty of Medicine, Medical Park Antalya Hospital, Antalya, Turkey.<br /><searchLink fieldCode="AU" term="%22Sharfe+N%22">Sharfe N</searchLink>; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Beldar+S%22">Beldar S</searchLink>; Structural Genomics Consortium, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Sun+MGF%22">Sun MGF</searchLink>; Oracle Therapeutics (Canada) Inc, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Dadi+H%22">Dadi H</searchLink>; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Vong+L%22">Vong L</searchLink>; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Maxson+M%22">Maxson M</searchLink>; Program in Cell Biology, Peter Gilgan Centre for Research and Learning, Hospital for Sick Children, Toronto, ON, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Karaca+NE%22">Karaca NE</searchLink>; Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Mevlitoğlu+S%22">Mevlitoğlu S</searchLink>; Dolunay Pediatric Clinic, Muratpasa, Antalya, Turkey.<br /><searchLink fieldCode="AU" term="%22Grinstein+S%22">Grinstein S</searchLink>; Program in Cell Biology, Peter Gilgan Centre for Research and Learning, Hospital for Sick Children, Toronto, ON, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Artan+R%22">Artan R</searchLink>; Department of Pediatric Gastroenterology, Akdeniz University Faculty of Medicine, Antalya, Turkey.<br /><searchLink fieldCode="AU" term="%22Merico+D%22">Merico D</searchLink>; Vevo Therapeutics, San Francisco, CA.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Roifman+CM%22">Roifman CM</searchLink>; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada.
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  Data: <searchLink fieldCode="JN" term="%227603509%22">Blood</searchLink> [Blood] 2023 Jun 29; Vol. 141 (26), pp. 3226-3230.
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        Value: 10.1182/blood.2022017968
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              Text: 2023 Jun 29
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