Article
Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.
Annals of hematology - 1 Feb 2011
van de Vosse Esther, Verhard Els M, Tool Anton J T, de Visser Adriëtte W, Kuijpers Taco W, Hiemstra Pieter S, van Dissel Jaap T
Abstract excerpt
We have analysed a family with nine congenital neutropenia patients in four generations, several of which we have studied in a long-term follow-up of over 25 years. The patients were mild to severe neutropenic and suffered from various recurrent bacterial infections. Mutations in the genes ELANE, CSF3R and GFI1 have been reported in patients with autosomal dominant congenital neutropenias. Using a small-scale...
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