Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.

doi:10.1111/j.1651-2227.2007.00274.x

Article

Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.

Acta paediatrica (Oslo, Norway : 1992) - 1 Jun 2007

Carlsson Göran, Melin Malin, Dahl Niklas, Ramme Kim Göransdotter, Nordenskjöld Magnus, Palmblad Jan, Henter Jan-Inge, Fadeel Bengt

Abstract excerpt

UNLABELLED: Congenital neutropenia in man was first reported 50 years ago by the Swedish paediatrician Rolf Kostmann. He coined the term 'infantile genetic agranulocytosis' for this condition, which is now known as Kostmann syndrome. Recent studies have revealed mutations in ELA-2, encoding the n...

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Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.

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