Title |
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry
|
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Published in |
Orphanet Journal of Rare Diseases, September 2012
|
DOI | 10.1186/1750-1172-7-71 |
Pubmed ID | |
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 |
Abstract |
WHIM syndrome (WS), a rare congenital neutropenia due to mutations of the CXCR4 chemokine receptor, is associated with Human Papillomavirus (HPV)-induced Warts, Hypogammaglobulinemia, bacterial Infections and Myelokathexis. The long term follow up of eight patients highlights the clinical heterogeneity of this disease as well as the main therapeutic approaches and remaining challenges in the light of the recent development of new CXCR4 inhibitors. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 67% |
Scientists | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 1% |
United States | 1 | 1% |
Unknown | 70 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 13 | 18% |
Researcher | 11 | 15% |
Student > Master | 7 | 10% |
Student > Doctoral Student | 7 | 10% |
Other | 6 | 8% |
Other | 15 | 21% |
Unknown | 13 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 23 | 32% |
Agricultural and Biological Sciences | 9 | 13% |
Biochemistry, Genetics and Molecular Biology | 8 | 11% |
Immunology and Microbiology | 7 | 10% |
Pharmacology, Toxicology and Pharmaceutical Science | 3 | 4% |
Other | 5 | 7% |
Unknown | 17 | 24% |