title: Recurrent CXCR4 sequence variation in a girl with WHIM syndrome.
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.
authors.affiliation: Department of Infectious and Pediatric Immunology, Medical and Health Science Centre, University of Debrecen, Debrecen, Hungary.
authors.forename: Krisztina
authors.initials: K
authors.lastname: Alapi
authors.forename: Melinda
authors.initials: M
authors.lastname: Erdos
authors.forename: Gabriella
authors.initials: G
authors.lastname: Kovács
authors.forename: László
authors.initials: L
authors.lastname: Maródi
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics*; D002648:Child; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D009154:Mutation; D019718:Receptors, CXCR4 / Q000235:genetics*; D012008:Recurrence; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D013577:Syndrome; D014860:Warts / Q000235:genetics*
chemical_list: D019718:Receptors, CXCR4