A syndrome with congenital neutropenia and mutations in G6PC3 by Boztug Kaan, Appaswamy Giridharan, Ashikov Angel, Schäffer Alejandro A, Salzer Ulrich, Diestelhorst Jana, Germeshausen Manuela, Brandes Gudrun, Lee-Gossler Jacqueline, Noyan Fatih, Gatzke Anna-Katherina, Minkov Milen, Greil Johann, Kratz Christian, Petropoulou Theoni, Pellier Isabelle, Bellanné-Chantelot Christine, Rezaei Nima, Mönkemöller Kirsten, Irani-Hakimeh Noha, Bakker Hans, Gerardy-Schahn Rita, Zeidler Cornelia, Grimbacher Bodo, Welte Karl, Klein Christoph in The New England journal of medicine (2009). PubMed


The main features of severe congenital neutropenia are the onset of severe bacterial infections early in life, a paucity of mature neutrophils, and an increased risk of leukemia. In many patients, the genetic causes of severe congenital neutropenia are unknown.

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