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Defects in B12 and Folate Metabolism (TCN2, SLC46A1 (PCFT Deficiency), MTHFD1)

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Encyclopedia of Medical Immunology

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Synonyms

FOCM: Folate-mediated one-carbon metabolism; HFM: Hereditary folate malabsorption; MTHFD1: Methylenetetrahydrofolate dehydrogenase 1; PCFT: Proton-coupled folate transporter; SCID: Severe combined immunodeficiency; SLC46A1: Solute carrier family 46, member 1; TCN2: Transcobalamin II

The interplay between cellular metabolism and immune function has been highlighted by the occurrence of severe combined immunodeficiency (SCID) in patients with defective mitochondrial function and purine metabolism, as reported in reticular dysgenesis, adenosine deaminase (ADA), and purine nucleoside phosphorylase (PNP) deficiency. Besides these well-established associations, only a few other metabolic defects have been reported to present with combined immunodeficiency. However, the list of metabolism-related genes causing abnormalities in the immune system is likely to grow in the coming years as a consequence of the use of next-generation sequencing technologies in patients with suspected...

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References

  • Borzutzky A, Crompton B, Bergmann AK, et al. Reversible severe combined immunodeficiency phenotype secondary to a mutation in the proton-coupled folate transporter. Clin Immunol. 2009;133:287–94.

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Authors and Affiliations

  1. Department of Pediatric Infectious Diseases and Immunology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile

    Arturo Borzutzky & Rodrigo Hoyos-Bachiloglu

Authors
  1. Arturo Borzutzky
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  2. Rodrigo Hoyos-Bachiloglu
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Corresponding author

Correspondence to Arturo Borzutzky .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, VIC, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Noel R. Rose

Section Editor information

  1. USF Health, Tampa, Florida, USA

    Jolan Walter

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Borzutzky, A., Hoyos-Bachiloglu, R. (2019). Defects in B12 and Folate Metabolism (TCN2, SLC46A1 (PCFT Deficiency), MTHFD1). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_171-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_171-1

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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