[HTML][HTML] Enhanced function with decreased internalization of carboxy-terminus truncated CXCR4 responsible for WHIM syndrome
T Kawai, U Choi, NL Whiting-Theobald, GF Linton… - Experimental …, 2005 - Elsevier
OBJECTIVE: WHIM (warts, hypogammaglobulinemia, recurrent bacterial infection,
myelokathexis) syndrome is an autosomal dominant immune deficiency with severe chronic
neutropenia and marrow neutrophil apoptosis. Carboxy-termini truncating mutations in the
chemokine receptor CXCR4 have been identified in WHIM patients. We created a retrovirus
encoding mutated CXCR4 (truncating point mutation 1000C→ T [R334X] inherited
heterozygously in several WHIM patients) in order to transducer healthy human CD34 stem …
myelokathexis) syndrome is an autosomal dominant immune deficiency with severe chronic
neutropenia and marrow neutrophil apoptosis. Carboxy-termini truncating mutations in the
chemokine receptor CXCR4 have been identified in WHIM patients. We created a retrovirus
encoding mutated CXCR4 (truncating point mutation 1000C→ T [R334X] inherited
heterozygously in several WHIM patients) in order to transducer healthy human CD34 stem …