title: The role of a mutation of the CXCR4 gene in WHIM syndrome.
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.
authors.forename: Shoichiro
authors.initials: S
authors.lastname: Taniuchi
authors.forename: Midori
authors.initials: M
authors.lastname: Masuda
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fujii
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Izawa
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Yohnosuke
authors.initials: Y
authors.lastname: Kobayashi
mesh_terms: D000954:Antigens, Surface / Q000502:physiology*; D002648:Child; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008894:Milk Proteins; D009154:Mutation; D019718:Receptors, CXCR4 / Q000235:genetics*; D014430:Twins, Monozygotic
chemical_list: D000954:Antigens, Surface; C098942:MFGE8 protein, human; D008894:Milk Proteins; D019718:Receptors, CXCR4