Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency

Pediatr Allergy Immunol. 2016 Feb;27(1):96-8. doi: 10.1111/pai.12451. Epub 2015 Oct 12.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Computational Biology
  • DNA Mutational Analysis
  • Databases, Genetic
  • Exome*
  • Female
  • Genetic Predisposition to Disease
  • Guanine Nucleotide Exchange Factors / deficiency
  • Guanine Nucleotide Exchange Factors / genetics*
  • Homozygote*
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / enzymology
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Mutation*
  • Pedigree
  • Phenotype

Substances

  • DOCK8 protein, human
  • Guanine Nucleotide Exchange Factors