Published in:
01-02-2010
Genetic Insights into Congenital Neutropenia
Authors:
Christoph Klein, Karl Welte
Published in:
Clinical Reviews in Allergy & Immunology
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Issue 1/2010
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Abstract
Congenital neutropenia syndromes comprise a heterogeneous group of disorders leading to increased susceptibility to bacterial infections. Recent work has elucidated the molecular basis of several congenital neutropenia syndromes such as mutations in ELA2, HAX1, GF11, and WAS. In addition, a number of complex clinical syndromes associating congenital neutropenia have been recognized and elucidated on a genetic level, e.g. p14-deficiency or G6PC3-deficiency. The clinical and genetic findings of various neutropenia syndromes are being discussed.