Overview

Kostmann syndrome is marked by a paucity of neutrophils, the white blood cells that fight infection. It was first documented in 1956, in Switzerland, and is often referred to as severe congenital neutropenia.

Characteristics

Kostmann syndrome is a congenital syndrome that ceases myelopoiesis, the formation of bone marrow. Infants with it are essentially born with perniciously weak immune system, and are at risk of developing Acute Myeloid Leukaemia. 75% of children born with this syndrome die before their third year.

Genetic Basis

Kostmann syndrome seems to be derived from a defect in chromosome 1, in the gene that codes for granulocyte colony-stimulating factor receptor (GCSFR). Congentital neutropenia is not always designated Kostmann syndrome; in order to labeled as such the neutropenia must be the result of a GCSFR deficiency.

The condition is autosomal recessive; a person that was born with the disorder and has children with another person with the disorder has a 25% chance of passing the disorder to their children. Treatment involves the implantation of recombinant granulocyte colony-stimulating factor, which elevates neutrophil count.

Index of Medical Terms Used

  • Agranulocytosis: A dangerously low amount of neutrophils. Used in severe cases of neutropenia.
  • Myelopoiesis: The formation of bone marrow.
  • Neutropenia: A low amount of neutrophils.
  • Neutrophil: Infection-fighting white blood cells.

Sources:

National Center for Biotechnology Information
Centre National De La Recherche Scientifique
MedicineNet

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