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).

[PMID: 19118303] 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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