Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

J Allergy Clin Immunol. 2013 Feb;131(2):594-7.e1-3. doi: 10.1016/j.jaci.2012.10.062.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Diarrhea / genetics*
  • Diarrhea / immunology
  • Eczema / genetics*
  • Eczema / immunology
  • Guanine Nucleotide Exchange Factors / genetics*
  • Guanine Nucleotide Exchange Factors / immunology
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Infections / genetics*
  • Infections / immunology
  • Lectins, C-Type / genetics*
  • Lectins, C-Type / immunology
  • Male
  • Mutation*
  • Siblings

Substances

  • CLEC7A protein, human
  • DOCK8 protein, human
  • Guanine Nucleotide Exchange Factors
  • Lectins, C-Type