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

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Bibliographic Details
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
Description
ISSN:1528-0020
DOI:10.1182/blood.2022017968