title: Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia.
abstract: Congenital neutropenia in man was first reported 50 years ago by the Swedish paediatrician Rolf Kostmann. He coined the term "infantile genetic agranulocytosis" for this condition, which is now known as Kostmann syndrome. Recent studies have demonstrated a lack of antibacterial peptides and severe periodontitis in these patients despite recombinant growth factor treatment. Moreover, an increased degree of apoptosis of myeloid progenitor cells in the bone marrow has been shown.
  
  
  CONCLUSIONS
  Future studies should aim to clarify the underlying molecular genetic defect in Kostmann syndrome.
authors.affiliation: Childhood Cancer Research Unit, Department of Women and Child Health, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Göran
authors.initials: G
authors.lastname: Carlsson
authors.forename: Mats
authors.initials: M
authors.lastname: Andersson
authors.forename: Katrin
authors.initials: K
authors.lastname: Pütsep
authors.forename: Daniel
authors.initials: D
authors.lastname: Garwicz
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: Jan-Inge
authors.initials: JI
authors.lastname: Henter
authors.forename: Jan
authors.initials: J
authors.lastname: Palmblad
authors.forename: Bengt
authors.initials: B
authors.lastname: Fadeel
mesh_terms: D000380:Agranulocytosis / Q000235:genetics / Q000266:history* / Q000503:physiopathology; D049673:History, 20th Century; D006801:Humans; D009503:Neutropenia / Q000151:congenital / Q000266:history*; D013548:Sweden