Omenn syndrome is associated with mutations in DNA ligase IV

J Allergy Clin Immunol. 2008 Dec;122(6):1219-20. doi: 10.1016/j.jaci.2008.08.031. Epub 2008 Oct 9.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Bone Marrow Transplantation
  • DNA Ligase ATP
  • DNA Ligases / genetics*
  • Female
  • Frameshift Mutation*
  • Graft vs Host Disease / blood
  • Graft vs Host Disease / drug therapy
  • Graft vs Host Disease / genetics
  • Graft vs Host Disease / immunology
  • Humans
  • Infant, Newborn
  • Male
  • Polymorphism, Single Nucleotide*
  • Remission Induction
  • Severe Combined Immunodeficiency / blood
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology
  • Severe Combined Immunodeficiency / therapy
  • Transplantation, Homologous

Substances

  • LIG4 protein, human
  • DNA Ligases
  • DNA Ligase ATP