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  • Somatic point mutations or frameshift mutations in the CXCR4 gene that result in the truncation of between 10 and 19 amino acid residues from the carboxyl terminus of C-X-C chemokine receptor type 4 protein (CXCR-4) and are associated with Waldenstrom Macroglobulinemia. These mutations are similar to those found in the hereditary disease WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome and encode a constitutively active form of the CXCR-4 protein.
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