Syndrome, Kostmann

A condition with a lack of neutrophils (a type of white blood cell that is important in fighting infection). Children with the syndrome suffer frequent infections from bacteria which in the past led to death in three-quarters of cases before 3 years of age. This disease is also known as severe congenital neutropenia (SCN). Children with SCN have no special problems with viral or fungal infections. They do, however, have an increased risk of developing acute myelogenous leukemia or myelodysplasia, a bone marrow disorder. Aside from agranulocytosis, the bone marrow and blood show a number of other abnormalities (including maturational arrest of neutrophil precursors at the promyelocyte stage, absolute monocytosis, eosinophilia and thrombocytosis). The gamma globulin level (antibodies) in blood is low, further increasing the risk for infection. The inheritance of the disease is autosomal recessive. Both seemingly-normal parents carry an SCN gene while each of their children, boys and girls alike, has a 1 in 4 (25%) risk of receiving both SCN genes and having the disease: severe congenital neutropenia (SCN). SCN was first clearly described by Kostmann in 1956. It is now known to be caused by a defect in a gene on chromosome 1 (in 1p35-p34.3) that codes for what is called the granulocyte colony-stimulating factor receptor (GCSFR). Treatment with recombinant human granulocyte colony-stimulating factor (GCSF) elevates the granulocyte counts, helps resolve preexisting infections, diminishes the number of new infections and results in significant improvements in survival and quality of life. Some patients have developed leukemia or myelodysplastic syndrome following treatment with GCSF. Congenital neutropenia is due to diverse causes. Not all patients with congenital neutropenia have mutations in the GCSFR gene. Alternative names for Kostmann syndrome (or disease) include not only severe congenital neutropenia (SCN) but also infantile genetic agranulocytosis and genetic infantile agranulocytosis.

Medical dictionary. 2011.

Look at other dictionaries:

  • Kostmann syndrome — Classification and external resources ICD 10 D70 ICD 9 288.01 …   Wikipedia

  • Kostmann disease — Children born with this condition lack neutrophils (a type of white blood cell that is important in fighting infection). These children suffer frequent infections from bacteria which in the past led to death in three quarters of cases before 3… …   Medical dictionary

  • Kostmann syndrome (neutropenia) — Kost·mann syndrome (neutropenia) (kostґmahn) [Rolf Kostmann, Swedish physician, 1909–1982] see under syndrome …   Medical dictionary

  • Kostmann syndrome — an autosomal recessive form of severe congenital neutropenia (gene locus: 1q21.3), characterized by early onset of recurrent pyogenic infections of the skin and lung, absence of neutrophils in the blood, absolute monocytosis and eosinophilia, and …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Kostmann neutropenia — see under syndrome …   Medical dictionary

  • Kostmann&’s syndrome — Autosomal recessive disease characterized by profound neutropenia. It appears that bone marrow precursor cells fail to respond to the endogenous (normal) levels of functional G CSF though they will respond to pharmacologic doses of G CSF and the… …   Dictionary of molecular biology

  • Kostmann's syndrome — severe congenital neutropenia a hereditary (autosomal recessive) disorder characterized by severe neutropenia. This results in frequent bacterial infections, and death often occurs before the age of 6 months …   The new mediacal dictionary

  • Disease, Kostmann — A condition with a lack of neutrophils (a type of white blood cell that is important in fighting infection). Children with this disease suffer frequent infections from bacteria which in the past led to death in three quarters of cases before 3… …   Medical dictionary

  • Chédiak–Higashi syndrome — Classification and external resources ICD 10 E70.3 (E70.340 ILDS) ICD 9 288.2 …   Wikipedia

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