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

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

  1. 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.CrossRefGoogle Scholar
  2. Keller MD, Ganesh J, Heltzer M, et al. Severe combined immunodeficiency resulting from mutations in MTHFD1. Pediatrics. 2013;131:e629–34.CrossRefGoogle Scholar
  3. Qiu A, Jansen M, Sakaris A, et al. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell. 2006;127:917–28.CrossRefGoogle Scholar
  4. Ramakrishnan KA, Pengelly RJ, Gao Y, et al. Precision molecular diagnosis defines specific therapy in combined immunodeficiency with megaloblastic anemia secondary to MTHFD1 deficiency. J Allergy Clin Immunol Pract. 2016;4(6):1160–1166.e10.CrossRefGoogle Scholar
  5. Trakadis YJ, Alfares A, Bodamer OA, et al. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis. 2014;37(3):461–73.CrossRefGoogle Scholar

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