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Manuela Germeshausen, Sabine Deerberg, Yvonne Peter, Christina Reimer, Christian P. Kratz and Matthias Ballmaier The Spectrum of ELANE Mutations and their Implications in Severe Congenital and Cyclic Neutropenia Human Mutation 34

Article first published online: 2 APR 2013 | DOI: 10.1002/humu.22308

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We analyzed the spectrum of ELANE mutations, which are responsible for the majority of cases of severe congenital neutropenia (CN) and cyclic neutropenia (CyN). Using predictive algorithms we found a trend for a more benign prediction of CyN-associated mutations compared to those associated with CN. Within the group of CN the course of disease was more severe in patients with ELANE mutation compared to patients without ELANE mutations. The predictive value of specific ELANE mutations for leukemogenesis was low.

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