The role of a mutation of the CXCR4 gene in WHIM syndrome

Haematologica. 2005 Sep;90(9):1271-2.

Abstract

We investigated the role of a mutation of the CXCR4 gene in 11-year-old twin sisters with WHIM syndrome. The mutated gene may result in production of the mutant CXCR4 protein causing abnormal apoptosis and migratory function, which are thought to be related to the cause of chronic neutropenia in WHIM syndrome.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Antigens, Surface / physiology*
  • Child
  • Diseases in Twins / genetics*
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Milk Proteins
  • Mutation
  • Receptors, CXCR4 / genetics*
  • Twins, Monozygotic

Substances

  • Antigens, Surface
  • MFGE8 protein, human
  • Milk Proteins
  • Receptors, CXCR4