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

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Published inBlood Vol. 141; no. 26; pp. 3226 - 3230
Main Authors Shiraishi, Akira, Uygun, Vedat, Sharfe, Nigel, Beldar, Serap, Sun, Mark G. F., Dadi, Harjit, Vong, Linda, Maxson, Michelle, Karaca, Neslihan E., Mevlitoğlu, Süleyman, Grinstein, Sergio, Artan, Reha, Merico, Daniele, Roifman, Chaim M.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 29.06.2023
Subjects
Folic Acid
Humans
Mutation
Reduced Folate Carrier Protein - genetics
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Author Grinstein, Sergio
Beldar, Serap
Merico, Daniele
Sun, Mark G. F.
Maxson, Michelle
Dadi, Harjit
Mevlitoğlu, Süleyman
Vong, Linda
Roifman, Chaim M.
Artan, Reha
Shiraishi, Akira
Uygun, Vedat
Karaca, Neslihan E.
Sharfe, Nigel
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  organization: Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada
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References Burda, Kuster, Hjalmarson (bib2) 2015; 38
De Bruyn, Gulbis, Cotton (bib10) 2014; 92
Ng, Henikoff (bib14) 2001; 11
Czeizel, Dudas (bib5) 1992; 327
Svaton, Skvarova Kramarzova, Kanderova (bib9) 2020; 135
Roifman (bib1) 2018
Ishikawa, Barber (bib17) 2008; 455
Evans, Chavez-Rueda, Eddaoudi (bib20) 2007; 178
Hou, Matherly (bib11) 2014; 73
Gutjahr, Papagno, Nicoli (bib19) 2019; 4
Tan, Li, Guo (bib3) 2017; 96
Luteijn, Zaver, Gowen (bib12) 2019; 573
Watkins, Schwartzentruber, Ganesh (bib4) 2011; 48
Crider, Yang, Berry, Bailey (bib6) 2012; 3
Konno, Konno, Barber (bib18) 2013; 155
Zhao, Min, Qiu (bib7) 2007; 110
Adzhubei, Schmidt, Peshkin (bib15) 2010; 7
Gelineau-van Waes, Heller, Bauer (bib21) 2008; 82
Malatack, Moran, Moughan (bib8) 1999; 104
Reva, Antipin, Sander (bib13) 2011; 39
Yang, Anishchenko, Park, Peng, Ovchinnikov, Baker (bib16) 2020; 117
References_xml – volume: 3
  start-page: 21
  year: 2012
  end-page: 38
  ident: bib6
  article-title: Folate and DNA methylation: a review of molecular mechanisms and the evidence for folate's role
  publication-title: Adv Nutr
  contributor:
    fullname: Bailey
– volume: 110
  start-page: 1147
  year: 2007
  end-page: 1152
  ident: bib7
  article-title: The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption
  publication-title: Blood
  contributor:
    fullname: Qiu
– volume: 96
  year: 2017
  ident: bib3
  article-title: Hereditary folate malabsorption with a novel mutation on SLC46A1
  publication-title: Medicine
  contributor:
    fullname: Guo
– volume: 327
  start-page: 1832
  year: 1992
  end-page: 1835
  ident: bib5
  article-title: Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation
  publication-title: N Engl J Med
  contributor:
    fullname: Dudas
– volume: 11
  start-page: 863
  year: 2001
  end-page: 874
  ident: bib14
  article-title: Predicting deleterious amino acid substitutions
  publication-title: Genome Res
  contributor:
    fullname: Henikoff
– volume: 92
  start-page: 354
  year: 2014
  end-page: 359
  ident: bib10
  article-title: Serum and red blood cell folate testing for folate deficiency: new features?
  publication-title: Eur J Haematol
  contributor:
    fullname: Cotton
– volume: 573
  start-page: 434
  year: 2019
  end-page: 438
  ident: bib12
  article-title: SLC19A1 transports immunoreactive cyclic dinucleotides
  publication-title: Nature
  contributor:
    fullname: Gowen
– volume: 82
  start-page: 494
  year: 2008
  end-page: 507
  ident: bib21
  article-title: Embryonic development in the reduced folate carrier knockout mouse is modulated by maternal folate supplementation
  publication-title: Birth Defects Res A Clin Mol Teratol
  contributor:
    fullname: Bauer
– volume: 117
  start-page: 1496
  year: 2020
  end-page: 1503
  ident: bib16
  article-title: Improved protein structure prediction using predicted interresidue orientations
  publication-title: Proc Natl Acad Sci U S A
  contributor:
    fullname: Baker
– volume: 38
  start-page: 863
  year: 2015
  end-page: 872
  ident: bib2
  article-title: Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment
  publication-title: J Inherit Metab Dis
  contributor:
    fullname: Hjalmarson
– volume: 4
  year: 2019
  ident: bib19
  article-title: The STING ligand cGAMP potentiates the efficacy of vaccine-induced CD8+ T cells
  publication-title: JCI Insight
  contributor:
    fullname: Nicoli
– start-page: 489
  year: 2018
  end-page: 508
  ident: bib1
  article-title: Primary T-cell immunodeficiencies
  publication-title: Clinical Immunology: Principles and Practice
  contributor:
    fullname: Roifman
– volume: 48
  start-page: 590
  year: 2011
  end-page: 592
  ident: bib4
  article-title: Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
  publication-title: J Med Genet
  contributor:
    fullname: Ganesh
– volume: 39
  start-page: e118
  year: 2011
  ident: bib13
  article-title: Predicting the functional impact of protein mutations: application to cancer genomics
  publication-title: Nucleic Acids Res
  contributor:
    fullname: Sander
– volume: 178
  start-page: 7868
  year: 2007
  end-page: 7878
  ident: bib20
  article-title: Novel suppressive function of transitional 2 B cells in experimental arthritis
  publication-title: J Immunol
  contributor:
    fullname: Eddaoudi
– volume: 135
  start-page: 2427
  year: 2020
  end-page: 2431
  ident: bib9
  article-title: A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia
  publication-title: Blood
  contributor:
    fullname: Kanderova
– volume: 73
  start-page: 175
  year: 2014
  end-page: 204
  ident: bib11
  article-title: Biology of the major facilitative folate transporters SLC19A1 and SLC46A1
  publication-title: Curr Top Membr
  contributor:
    fullname: Matherly
– volume: 7
  start-page: 248
  year: 2010
  end-page: 249
  ident: bib15
  article-title: A method and server for predicting damaging missense mutations
  publication-title: Nat Methods
  contributor:
    fullname: Peshkin
– volume: 455
  start-page: 674
  year: 2008
  end-page: 678
  ident: bib17
  article-title: STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling
  publication-title: Nature
  contributor:
    fullname: Barber
– volume: 155
  start-page: 688
  year: 2013
  end-page: 698
  ident: bib18
  article-title: Cyclic dinucleotides trigger ULK1 (ATG1) phosphorylation of STING to prevent sustained innate immune signaling
  publication-title: Cell
  contributor:
    fullname: Barber
– volume: 104
  start-page: 1133
  year: 1999
  end-page: 1137
  ident: bib8
  article-title: Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect
  publication-title: Pediatrics
  contributor:
    fullname: Moughan
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SubjectTerms Folic Acid
Humans
Mutation
Reduced Folate Carrier Protein - genetics
Title Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier
URI https://dx.doi.org/10.1182/blood.2022017968
https://www.ncbi.nlm.nih.gov/pubmed/36745868
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