Kostmann syndrome

Kostmann syndrome is a hereditary disease in which, too few or no neutrophilic granulocytes are produced in the blood after birth. The mutated gene that interferes with the programmed process in the cells was able to be found.

The affected patients lack an important regulator of apoptosis. This leads to disorders in the maturation of myelopoiesis. Promyelocytes do not further differentiate into granulocytes. Due to the accompanying infections, the disease is usually noticed early after birth.

Patients suffering from Kostmann syndrome often suffer from osteoporosis as well.

Kostmann syndrome is a hereditary disease in which little or no neutrophil granulocytes (which belong to the white blood cells) are found in the blood after birth. The mutated gene, & nbsp; that could block the programmed process in the cells could be found.

Thus, the affected patients lack an important regulator of apoptosis. This leads to disturbances in the maturation of myelopoiesis. Promyelocytes do not further differentiate into granulocytes. Due to the concomitant infections, the disease is usually noticed at birth.

At the same time, patients with Kostmann syndrome suffer from osteoporosis at the same time.