Literature DB >> 16154852

The role of a mutation of the CXCR4 gene in WHIM syndrome.

Shoichiro Taniuchi, Midori Masuda, Yoshimitsu Fujii, Katsuhiko Izawa, Hirokazu Kanegane, Yohnosuke Kobayashi.   

Abstract

We investigated the role of a mutation of the CXCR4 gene in 11-year-old twin sisters with WHIM syndrome. The mutated gene may result in production of the mutant CXCR4 protein causing abnormal apoptosis and migratory function, which are thought to be related to the cause of chronic neutropenia in WHIM syndrome.

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Year:  2005        PMID： 16154852

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


  2 in total

Review 1.  WHIM syndrome: congenital immune deficiency disease.

Authors:  Toshinao Kawai; Harry L Malech
Journal:  Curr Opin Hematol       Date:  2009-01       Impact factor: 3.284

2.  Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.

Authors:  Sarah Beaussant Cohen; Odile Fenneteau; Emmanuel Plouvier; Pierre-Simon Rohrlich; Gerard Daltroff; Isabelle Plantier; Alain Dupuy; Delphine Kerob; Blandine Beaupain; Pierre Bordigoni; Fanny Fouyssac; Anne-Lise Delezoide; Gilles Devouassoux; Jean François Nicolas; Philippe Bensaid; Yves Bertrand; Karl Balabanian; Christine Bellanne Chantelot; Françoise Bachelerie; Jean Donadieu
Journal:  Orphanet J Rare Dis       Date:  2012-09-25       Impact factor: 4.123
  2 in total

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