Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis

J Clin Immunol. 2018 Oct;38(7):742-744. doi: 10.1007/s10875-018-0555-2. Epub 2018 Oct 4.
No abstract available

Publication types

  • Letter

MeSH terms

  • Alleles
  • DNA Mutational Analysis
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • I-kappa B Kinase / deficiency*
  • Infant, Newborn
  • Mutation
  • Neonatal Screening
  • Phenotype
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / genetics*

Substances

  • I-kappa B Kinase
  • IKBKB protein, human