Recurrent CXCR4 sequence variation in a girl with WHIM syndrome

WHIM (warts-hypogammaglobulinemia-infections-myelokathexis) syndrome is a recently described primary immunodeficiency disorder caused by mutation of the CXCR4 chemokine receptor gene. We report here of a 6.5-yr-old girl with bacterial infections, severe chronic neutropenia, and hypogammaglobulinemia. Sequencing the CXCR4 gene revealed a c.1013C > G sequence variant suggesting WHIM syndrome. Recurrent c.1013C > G sequence variant of the CXCR4 gene resulting in p.S338X truncation mutation of this chemokine receptor protein is first reported here.