Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood

J Allergy Clin Immunol. 2017 Jan;139(1):360-363.e6. doi: 10.1016/j.jaci.2016.06.050. Epub 2016 Aug 13.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • B-Lymphocytes / immunology*
  • Disease Progression
  • Genetic Markers
  • Homozygote
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Male
  • Mutation, Missense*
  • Nucleotidyltransferases / genetics*
  • Young Adult

Substances

  • Genetic Markers
  • Nucleotidyltransferases
  • TRNT1 protein, human