Kostmann disease and other forms of severe congenital neutropenia.
apoptosis
bone marrow failure
leukaemia
necroptosis
neutropenia
Journal
Acta paediatrica (Oslo, Norway : 1992)
ISSN: 1651-2227
Titre abrégé: Acta Paediatr
Pays: Norway
ID NLM: 9205968
Informations de publication
Date de publication:
Nov 2021
Nov 2021
Historique:
revised:
05
06
2021
received:
08
04
2021
accepted:
22
06
2021
pubmed:
24
6
2021
medline:
3
11
2021
entrez:
23
6
2021
Statut:
ppublish
Résumé
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.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
2912-2920Subventions
Organisme : Cancerfonden
Organisme : Stockholms Läns Landsting
Organisme : Barncancerfonden
Informations de copyright
© 2021 The Authors. Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.
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