Biallelic MTHFD1 variants presenting as severe combined immunodeficiency

Clin Immunol. 2023 Oct:255:109768. doi: 10.1016/j.clim.2023.109768. Epub 2023 Sep 9.
No abstract available

Keywords: Folate; Lymphopenia; MTHFD1; Severe combined immunodeficiency.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Humans
  • Methylenetetrahydrofolate Dehydrogenase (NADP) / genetics
  • Minor Histocompatibility Antigens / genetics
  • Severe Combined Immunodeficiency* / diagnosis
  • Severe Combined Immunodeficiency* / genetics

Substances

  • Methylenetetrahydrofolate Dehydrogenase (NADP)
  • Minor Histocompatibility Antigens
  • MTHFD1 protein, human