Kostmann syndrome

The food man syndrome ( synonym: Crohn's food man, severe congenital neutropenia ) is a rare inherited disorder in which can be found in the blood from birth to little or no neutrophils (which belong to the white blood cells).

The disease was in 1956 by the Swedish physician Rolf food man ( 1909-1982 ) described in a family with six affected children for the first time and initially infantile genetic agranulocytosis called. 2007 succeeded the German pediatrician and Leibniz winner Christoph Klein with HAX 1 to find the mutated gene that disrupts the programmed sequence in the cells. These drugs are missing an important regulator of apoptosis.

This leads to disturbances in the maturation of white blood cells ( engraftment ). Promyelocytes do not differentiate further into granulocytes. Since this disease is hereditary, several people may be affected in a family. In rare cases, the disease also occurs spontaneously. The prevalence is below a case to 300,000 newborns. Because of concomitant infections, the disease is usually noticed after birth early. On Kostmann syndrome sufferers often suffer simultaneously to osteoporosis.

Because of neutropenia occur frequently severe bacterial infections and abscesses. Often it comes from the second year of life to a erosive gingivitis and periodontitis the oral cavity.

Therapeutically comes a long-term treatment with G -CSF or a bone marrow transplant in question. Before the treatment with G -CSF was introduced, most of the children died from their severe infections. Before the introduction of effective antibiotics, the disease was fatal.