Recurrent CXCR4 sequence variation in a girl with WHIM syndrome

Krisztina Alapi, M. Erdős, Gabriella Kovács, L. Máródi

Research output: Contribution to journalArticle

20 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)86-88
Number of pages3
JournalEuropean Journal of Haematology
Volume78
Issue number1
DOIs
Publication statusPublished - Jan 2007

Fingerprint

Chemokine Receptors
CXCR4 Receptors
Genes
Agammaglobulinemia
Mutation
Bacterial Infections
WHIM syndrome
Proteins
Severe chronic Neutropenia

Keywords

  • CXCR4 mutation
  • Immunodeficiency
  • Myelokathexis
  • Recurrent infections

ASJC Scopus subject areas

  • Hematology

Cite this

Recurrent CXCR4 sequence variation in a girl with WHIM syndrome. / Alapi, Krisztina; Erdős, M.; Kovács, Gabriella; Máródi, L.

In: European Journal of Haematology, Vol. 78, No. 1, 01.2007, p. 86-88.

Research output: Contribution to journalArticle

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