A novel IL2RG mutation presenting with atypical T(-)B(+)NK+ phenotype: rapid elucidation of NK cell origin

Pediatr Blood Cancer. 2014 Jan;61(1):178-9. doi: 10.1002/pbc.24717. Epub 2013 Aug 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Female
  • Humans
  • Infant
  • Interleukin Receptor Common gamma Subunit / genetics*
  • Killer Cells, Natural / immunology*
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • X-Linked Combined Immunodeficiency Diseases / blood
  • X-Linked Combined Immunodeficiency Diseases / genetics*
  • X-Linked Combined Immunodeficiency Diseases / immunology*

Substances

  • IL2RG protein, human
  • Interleukin Receptor Common gamma Subunit