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A Syndrome with Congenital Neutropenia and Mutations inG6PC3
Author(s) -
Kaan Boztuğ,
Giridharan Appaswamy,
Angel Ashikov,
Alejandro A. Schäffer,
Ulrich Salzer,
Jana Diestelhorst,
Manuela Germeshausen,
Gudrun Brandes,
Jacqueline Lee-Gossler,
Fatih Noyan,
Anna-Katherina Gatzke,
Milen Minkov,
Johann Greil,
Christian P. Kratz,
Theoni Petropoulou,
Isabelle Pellier,
Christine BellannéChantelot,
Nima Rezaei,
Kirsten Mönkemöller,
Noha Irani-Hakimeh,
Hans Bakker,
Rita GerardySchahn,
Cornelia Zeidler,
Bodo Grimbacher,
Karl Welte,
Christoph Klein
Publication year - 2008
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa0805051
Subject(s) - congenital neutropenia , neutropenia , medicine , pediatrics , leukemia , cyclic neutropenia , intensive care medicine , chemotherapy
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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