CXCR4 WHIM-Like Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** 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.

**Synonyms:** - C-X-C Chemokine Receptor Type 4 WHIM-Like Mutation - CXCR-4 WHIM-Like Mutation - Chemokine (C-X-C Motif) Receptor 4 WHIM-Like Mutation