Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

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

  • Arturo BorzutzkyEmail author
  • Rodrigo Hoyos-Bachiloglu
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_171-1


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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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Pediatric Infectious Diseases and Immunology, School of MedicinePontificia Universidad Católica de ChileSantiagoChile

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA