| pubmed-article:12588357 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:12588357 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:12588357 | lifeskim:mentions | umls-concept:C0087111 | lld:lifeskim |
| pubmed-article:12588357 | lifeskim:mentions | umls-concept:C0080090 | lld:lifeskim |
| pubmed-article:12588357 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:12588357 | lifeskim:mentions | umls-concept:C1853118 | lld:lifeskim |
| pubmed-article:12588357 | lifeskim:mentions | umls-concept:C1332792 | lld:lifeskim |
| pubmed-article:12588357 | lifeskim:mentions | umls-concept:C1517942 | lld:lifeskim |
| pubmed-article:12588357 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:12588357 | pubmed:dateCreated | 2003-2-17 | lld:pubmed |
| pubmed-article:12588357 | pubmed:abstractText | Severe congenital neutropenia (SCN) is characterized by profound neutropenia, recurrent severe bacterial infections and maturation arrest in the myeloid lineage. Granulocyte colony-stimulating factor (G-CSF) treatment results in clinical improvement in over 90% of cases. Point mutations of the G-CSF receptor (G-CSFR) have been implicated in the progression of SCN to acute myeloid leukaemia (AML). Data are presented here on the 9-year follow-up of seven patients and the further screening of 18 other cases. One of the two original cases with a G-CSFR mutation has improved clinically; nevertheless, mutant DNA could still be detected at a very low level > 8 years after identification. The second child with a mutation progressed to myelodysplasia/AML 5 years after her mutation was detected. No mutations were found in the 18 new cases. One of three transformed cases had a G-CSFR mutation. This work is in agreement with the suggestion that G-CSFR mutations may provide a survival advantage to haemopoietic stem cells, but argues against the inevitability of leukaemic progression in their presence. Furthermore, the low frequency of G-CSFR mutations in SCN and the importance of regular screening and close clinical and laboratory follow-up if a mutation is found were demonstrated. | lld:pubmed |
| pubmed-article:12588357 | pubmed:language | eng | lld:pubmed |
| pubmed-article:12588357 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12588357 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:12588357 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12588357 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12588357 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:12588357 | pubmed:issn | 0007-1048 | lld:pubmed |
| pubmed-article:12588357 | pubmed:author | pubmed-author:LinchDavid... | lld:pubmed |
| pubmed-article:12588357 | pubmed:author | pubmed-author:HannIanI | lld:pubmed |
| pubmed-article:12588357 | pubmed:author | pubmed-author:LiesnerRiR | lld:pubmed |
| pubmed-article:12588357 | pubmed:author | pubmed-author:GaleRosemary... | lld:pubmed |
| pubmed-article:12588357 | pubmed:author | pubmed-author:AncliffPhil... | lld:pubmed |
| pubmed-article:12588357 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:12588357 | pubmed:volume | 120 | lld:pubmed |
| pubmed-article:12588357 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12588357 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12588357 | pubmed:pagination | 685-90 | lld:pubmed |
| pubmed-article:12588357 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:meshHeading | pubmed-meshheading:12588357... | lld:pubmed |
| pubmed-article:12588357 | pubmed:year | 2003 | lld:pubmed |
| pubmed-article:12588357 | pubmed:articleTitle | Long-term follow-up of granulocyte colony-stimulating factor receptor mutations in patients with severe congenital neutropenia: implications for leukaemogenesis and therapy. | lld:pubmed |
| pubmed-article:12588357 | pubmed:affiliation | Department of Haematology, University College London, London, UK. p.ancliff@ucl.ac.uk | lld:pubmed |
| pubmed-article:12588357 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12588357 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:12588357 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:12588357 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:12588357 | lld:pubmed |
