The role of a mutation of the CXCR4 gene in WHIM syndrome.
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.
Taniuchi
Shoichiro
S
Masuda
Midori
M
Fujii
Yoshimitsu
Y
Izawa
Katsuhiko
K
Kanegane
Hirokazu
H
Kobayashi
Yohnosuke
Y
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
D000954:Antigens, Surface; C098942:MFGE8 protein, human; D008894:Milk Proteins; D019718:Receptors, CXCR4