ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency

J Allergy Clin Immunol. 2009 Dec;124(6):1356-8. doi: 10.1016/j.jaci.2009.07.058.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoantigens / genetics
  • Autoantigens / metabolism
  • CD18 Antigens / genetics*
  • Chromosomes, Human, Pair 21 / genetics*
  • Collagen Type XVII
  • Humans
  • Infant, Newborn
  • Leukocyte-Adhesion Deficiency Syndrome / genetics*
  • Leukocyte-Adhesion Deficiency Syndrome / metabolism
  • Male
  • Mutation
  • Non-Fibrillar Collagens / genetics
  • Non-Fibrillar Collagens / metabolism
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Sequence Deletion

Substances

  • Autoantigens
  • CD18 Antigens
  • Non-Fibrillar Collagens