Recurrent CXCR4 sequence variation in a girl with WHIM syndrome
Krisztina Alapi1, Melinda Erdos, Gabriella Kovács
1Department of Infectious and Pediatric Immunology, Medical and Health Science Centre, University of Debrecen, Debrecen, Hungary.
Abstract:
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.
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