Congenital Neutropenia

Congenital neutropenias are rare diseases of myelopoiesis with a reduced number of neutrophil granulocytes in the blood. Affected patients often have an increased susceptibility to bacterial infections. Our research group investigates the genetic causes of severe congenital neutropenia and cyclic neutropenia, in which neutrophil counts fluctuate in a regular cycle of about 3 weeks.

Another focus of our work is research into the development of leukemia in patients with severe congenital neutropenia. We are looking for early molecular markers for leukemia development in blood cells of affected patients. The investigation of acquired mutations in the gene for the G-CSF receptor (CSF3R) in our laboratory has become an important standard diagnostic tool in the care of patients with severe congenital neutropenia.

You are welcome to send us material for the analysis of blood samples for the analysis of candidate genes of congenital neutropenias or for the analysis of the G-CSF receptor gene CSF3R in the context of our research projects.  Please contact us for more information.