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Genetic Insights into Congenital Neutropenia

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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.

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Acknowledgements

We thank all clinical and scientific colleagues referring patients, Dr. Georg Bohn for providing a first draft, Birthe Landes for editorial help. This work was supported by the German José Carreras Foundation, BMBF networks on Congenital bone marrow failure syndromes and Primary immunodeficiency syndromes, and the Clotten Foundation.

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  1. Department of Pediatric Hematology/Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany

    Christoph Klein

  2. Department of Molecular Hematopoiesis, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany

    Karl Welte

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Correspondence to Christoph Klein.

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Klein, C., Welte, K. Genetic Insights into Congenital Neutropenia. Clinic Rev Allerg Immunol 38, 68–74 (2010). https://doi.org/10.1007/s12016-009-8130-5

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