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WHIM syndrome

The term WHIM is an acronym for warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis (retention of white cells in the marrow, which becomes hypercellular), all of which characterize a rare primary immunodeficiency disorder (Diaz and Gulino, 2005). This autosomal dominant immune deficiency is characterized by severe chronic neutropenia, marrow neutrophil apoptosis, and extensive human papillomavirus (HPV) infections.

Hernandez et al (2003) have reported that the underlying cause of this disorder are mutations in the CXCR4 chemokine receptor.

Gulino et al (2004) have shown that CXCR4 gene mutations in WHIM patients do not affect cell surface expression of the chemokine ... ... ... ... ... Subscribe to continue reading! ... ...

 

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