Article
Novel genetic etiologies of severe congenital neutropenia.
Current opinion in immunology - 1 Oct 2009
Boztug Kaan, Klein Christoph
Abstract excerpt
Severe congenital neutropenia (SCN) comprises a heterogenous group of primary immunodeficiency disorders collectively characterized by paucity of mature neutrophils. In recent years, progress has been made with respect to the elucidation of genetic causes underlying syndromic and non-syndromic variants of SCN. Most cases of autosomal dominant SCN are associated with mutations in the neutrophil elastase...
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