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

Haematologica

Volumn 90, Issue 9, 2005, Pages 1271-1272

  Taniuchi, Shoichiro ^a   Masuda, Midori ^a   Fujii, Yoshimitsu ^a   Izawa, Katsuhiko ^b   Kanegane, Hirokazu ^c   Kobayashi, Yohnosuke ^a  

^a KANSAI MEDICAL UNIVERSITY   (Japan)

^b LSI MEDIENCE CORPORATION   (Japan)

^c TOYAMA MEDICAL AND PHARMACEUTICAL UNIVERSITY   (Japan)

Author keywords

CXCR4; Myelokathexis; Neutropenia; SDF 1; WHIM

Indexed keywords

CHEMOKINE RECEPTOR CXCR4;

APOPTOSIS; ARTICLE; CASE REPORT; CELL MIGRATION; FEMALE; GENE MUTATION; HUMAN; HYPOGAMMAGLOBULINEMIA; IMMUNE DEFICIENCY; INFECTION; NEUTROPENIA; POLYMERASE CHAIN REACTION; SCHOOL CHILD; VERRUCA VULGARIS; WHIM SYNDROME;

ANTIGENS, SURFACE; CHILD; DISEASES IN TWINS; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MILK PROTEINS; MUTATION; RECEPTORS, CXCR4; TWINS, MONOZYGOTIC;

EID: 25444531446     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Gorlin RJ, Gelb B, Diaz GA, Lofsness KG, Pittelkow MR, Fenyk JR Jr. WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. Am J Med Genet 2000;91:368-76.
2. Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Gen 2003;34:70-4.
3. Taniuchi S, Yamamoto A, Fujiwara T, Hasui M, Tsuji T, Kobayashi Y. Dizygotic twin sisters with myelokathexis: Mechanism of its neutropenia. Am J Hematol 1999;62:106-11.
4. Nagase H, Miyamasu M, Yamaguchi M, Imanishi M, Tsuno NH, Matsushima K, et al. Cytokine-mediated regulation of CXCR4 expression in human neutrophils. J Leukocyte Biol 2002;71:711-7.
5. Franitza S, Kollet O, Brill A, Franitza S, Kollet O, Brill A, et al. TGF-β 1 enhances SDF-1 α-induced chemotaxis and homing of naive T cells by up-regulating CXCR4 expression and downstream cytoskeletal effector molecules. Eur J Immunol 2002;32:193-202.
6. Masuda M, Morimoto T, Kobatake S, Nishimura N, Nakamoto K, Dong XH, et al. Measurement of soluble FcÁ receptor type IIIa derived from macrophages in plasma: increase in patients with rheumatoid arthritis. Clin Exp Immunol 2003; 132:477-84.
7. Babcock GJ, Farzan M, Sodroski J. Ligand-independent dimerization of CXCR4, a principal HIV-1 coreceptor. J Biol Chem 2003;278:3378-85.
8. Nagasawa T, Hirota S, Tachibana K, Takakura S, Nishikawa Y, Kitamura N, et al. Defects of B-cell lymphopoiesis and bone-marrow myelopoiesis in mice lacking the CXC chemokine PBSF/SDF-1. Nature 1996;382:635-8.
9. Rassam SM, Roderick P, Al-Hakim I, Hoffbrand AV. A myelokathexis-like variant of myelodysplasia. Eur J Haematol 1989;42:99-102.
10. Balabanian K, Lagane B, Pablos JL, Laurent L, Planchenault T, Verola O, et al. WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. Blood 2005;105:2449-57.