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

被引：1
|
作者：
Shiraishi, Akira [1 ,2 ]
Uygun, Vedat [3 ]
Sharfe, Nigel [1 ,4 ,5 ]
Beldar, Serap [6 ]
Sun, Mark G. F. [7 ]
Dadi, Harjit [1 ,4 ,5 ]
Vong, Linda [1 ,4 ,5 ]
Maxson, Michelle [8 ,9 ]
Karaca, Neslihan E. [10 ]
Mevlitoglu, Sueleyman [11 ]
Grinstein, Sergio [8 ,9 ]
Artan, Reha [12 ]
Merico, Daniele [13 ,14 ]
Roifman, Chaim M. [1 ,4 ,5 ,15 ]
机构：
[1] Hosp Sick Children, Dept Pediat, Div Immunol & Allergy, Toronto, ON, Canada
[2] Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka, Japan
[3] Istinye Univ, Med Pk Antalya Hosp, Pediat Bone Marrow Transplantat Unit, Fac Med, Antalya, Turkiye
[4] Hosp Sick Children, Canadian Ctr Primary Immunodeficiency, Toronto, ON, Canada
[5] Hosp Sick Children, Jeffrey Modell Res Lab Diag Primary Immunodeficien, Toronto, ON, Canada
[6] Univ Toronto, Struct Genom Consortium, Toronto, ON, Canada
[7] Oracle Therapeut Canada Inc, Toronto, ON, Canada
[8] Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Program Cell Biol, Toronto, ON, Canada
[9] Univ Toronto, Dept Biochem, Toronto, ON, Canada
[10] Ege Univ, Fac Med, Dept Pediat, Izmir, Turkiye
[11] Dolunay Pediat Clin, Antalya, Turkiye
[12] Akdeniz Univ, Fac Med, Dept Pediat Gastroenterol, Antalya, Turkiye
[13] Vevo Therapeut, San Francisco, CA USA
[14] Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada
[15] Hosp Sick Children, Div Immunol & Allergy, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
来源：
BLOOD | 2023年 / 141卷 / 26期
关键词：
ACID; MALABSORPTION; DEFICIENCY; GENE;
D O I：
10.1182/blood.2022017968
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：3226 / 3230
页数：5
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