Detection of a novel nonsense mutation in the interleukin 2 receptor gamma gene causing X-linked severe combined immunodeficiency

Ann Allergy Asthma Immunol. 2006 Apr;96(4):632. doi: 10.1016/S1081-1206(10)63563-6.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Bone Marrow Transplantation
  • Codon, Nonsense
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Infant
  • Male
  • Mutation*
  • Receptors, Interleukin-2 / genetics*
  • Sequence Analysis, DNA
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / genetics*

Substances

  • Codon, Nonsense
  • Receptors, Interleukin-2