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Recurrent CXCR4 sequence variation in a girl with WHIM syndrome
Author(s) -
Alapi Krisztina,
Erdős Melinda,
Kovács Gabriella,
Maródi László
Publication year - 2007
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2006.00779.x
Subject(s) - hypogammaglobulinemia , cxcr4 , gene , chemokine receptor , mutation , primary immunodeficiency , sequence (biology) , biology , genetics , missense mutation , medicine , immunology , chemokine , receptor , antibody , immune system
WHIM ( w arts‐ h ypogammaglobulinemia‐ i nfections‐ m yelokathexis) 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.