WHIM syndrome

Hernandez PA, Gorlin RJ, Lukens JN, et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet 2003 34 70-4. 

Diaz GA. CXCR4 mutations in WHIM syndrome a misguided immune system Immunol Rev 2005 203 235-243. 

Diaz GA, Gulino AV. WHIM syndrome a defect in CXCR4 signaling. Curr Allergy Asthma Rep 2005 5 350-355. 

Kawai T, Choi U, Whiting-Theobald NL, et al. Enhanced function with decreased internalization of carboxy-terminus truncated CXCR4 responsible for WHIM syndrome. Exp Hematol 2005 33 460-468. 

Cyster G 2005 Chemokines, sphingosine-l-phosphate, and cell migration in secondary lymphoid organs. Annu Rev Immunol 23 127—159 Diaz GA 2005 CXCR4 mutations in WHIM syndrome a misguided immune system. Immunol Rev 203 235-243... 

McCormick, P.J., Segarra, M., Gasperini, P., Gulino, A.V., and Tosato, G. (2009) Impaired Recruitment of Grk6 and beta-Arrestin . Causes Delayed Internalization and Desensitization of a WHIM Syndrome-Associated CXCR4 Mutant Receptor. PLoS One, 4, e8102. 

Sanmun, D., Garwicz, D., Smith, C.I., Palmblad, J., and Fadeel, B. (2006) Stromal-derived factor-1 abolishes constitutive apoptosis of WHIM syndrome neutrophils harbouring a truncating CXCR4 mutation. British Journal of Haematology, 134, 640-644. 

Hagan, J.B. and Nguyen, P.L. (2007) WHIM syndrome. Mayo Clinic Proceedings, 82, 1031. 

Gulino, A.V. (2003) WHIM syndrome a genetic disorder of leukocyte trafficking. Current Opinion in Allergy Clinical Immunology, 3, 443-450. 

Hernandez, P.A., Gorlin, R.J., Lukens, J.N., Taniuchi, S., Bohinjec, J., Francois, F., Klotman, M.E., and Diaz, G.A. (2003) Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nature Genetics, 34, 70-74. 

Altered leukocyte response to CXCL12 in patients with warts hypogaimnaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood, 104, 444-452. 

Kawai, T. and Malech, H.L. (2009) WHIM syndrome congenital immune deficiency disease. Current Opinion in Hematolcgy, 16, 20-26. 

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