Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

Blood. 2012 Mar 29;119(13):3185-7. doi: 10.1182/blood-2012-01-404350.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Carrier Proteins / genetics*
  • Codon, Nonsense* / genetics
  • DNA Mutational Analysis
  • Exome / genetics*
  • Female
  • Hermanski-Pudlak Syndrome / genetics*
  • Hermanski-Pudlak Syndrome / immunology
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Killer Cells, Natural / immunology
  • Killer Cells, Natural / metabolism
  • Killer Cells, Natural / physiology
  • Lectins / genetics*
  • Sequence Analysis, DNA

Substances

  • BLOC1S6 protein, human
  • Carrier Proteins
  • Codon, Nonsense
  • Lectins