A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Dermatitis, Exfoliative / diagnosis*
  • Dermatitis, Exfoliative / etiology
  • Dermatitis, Exfoliative / genetics
  • Female
  • Homozygote
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome / complications
  • Hyper-IgM Immunodeficiency Syndrome / diagnosis
  • Hyper-IgM Immunodeficiency Syndrome / genetics*
  • Immunoglobulin M / blood
  • Infant
  • Male
  • Mutation / genetics
  • Pedigree
  • Severe Combined Immunodeficiency / complications
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / genetics*

Substances

  • DNA-Binding Proteins
  • Immunoglobulin M
  • V(D)J recombination activating protein 2