Kostmann&’s syndrome


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 G-CSF receptors seem normal. Defect may be in intracellular signalling downstream of the receptor.

Dictionary of molecular biology. 2004.

Look at other dictionaries:

  • 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

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

  • 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… …   Medical dictionary

  • 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

  • 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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