Congenital Neutropenia

One form of congenital neutropenia involves neutrophil elastase mutation

Published in Cancer Weekly, January 13th, 2004

There are several types of congenital neutropenia, one involves mutation of the neutrophil elastase gene.

"Congenital neutropenia is strictly defined as neutropenia present at birth. However, it is more generally used to describe neutropenia secondary to inherited genetic mutations. This review will discuss the presentation of such children and the various causes of congenital neutropenia," scientists in England report.

"In particular, it will focus on severe congenital neutropenia (SCN) and the recent discovery of mutations in the gene encoding neutrophil elastase in the majority of cases of SCN. The potential mechanisms of pathogenesis and of...

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Source: Cancer Weekly (2004-01-13)

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