Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy

J Allergy Clin Immunol. 2013 Jul;132(1):222-3. doi: 10.1016/j.jaci.2012.11.006. Epub 2012 Dec 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Deaminase / deficiency
  • Adenosine Deaminase / genetics
  • Agammaglobulinemia / genetics*
  • Chromosomes, Human, Pair 20*
  • Female
  • Homozygote
  • Humans
  • Infant, Newborn
  • Mutation*
  • Phenotype
  • Severe Combined Immunodeficiency / genetics*
  • Uniparental Disomy*

Substances

  • Adenosine Deaminase

Supplementary concepts

  • Severe combined immunodeficiency due to adenosine deaminase deficiency