Kostmann disease and other forms of severe congenital neutropenia.
Bengt FadeelDaniel GarwiczGöran CarlssonBengt SandstedtMagnus NordenskjöldPublished in: Acta paediatrica (Oslo, Norway : 1992) (2021)
Congenital neutropenia with autosomal recessive inheritance was first described by the Swedish paediatrician Rolf Kostmann who coined the term 'infantile genetic agranulocytosis'. The condition is now commonly referred to as Kostmann disease. These patients display a maturation arrest of the myelopoiesis in the bone marrow and reduced neutrophil numbers and suffer from recurrent, often life-threatening infections. The molecular mechanism underlying congenital neutropenia has been intensively investigated, and mutations in genes that impinge on programmed cell death have been identified. The present review provides an overview of these studies.
Keyphrases
- bone marrow
- end stage renal disease
- chemotherapy induced
- genome wide
- newly diagnosed
- ejection fraction
- mesenchymal stem cells
- prognostic factors
- cell cycle
- peritoneal dialysis
- early onset
- mitochondrial dna
- mass spectrometry
- gestational age
- cell proliferation
- transcription factor
- duchenne muscular dystrophy
- genome wide identification