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Letter

Nature Genetics 34, 70–74 (1 May 2003) | doi:10.1038/ng1149

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

Paolo A. Hernandez , Robert J. Gorlin , John N. Lukens , Shoichiro Taniuchi , Jo|[zcaron]|e Bohinjec , Fleur Francois , Mary E. Klotman & George A. Diaz

WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis.