Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia.
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.
Carlsson
Göran
G
Childhood Cancer Research Unit, Department of Women and Child Health, Karolinska University Hospital, Stockholm, Sweden.
Andersson
Mats
M
Pütsep
Katrin
K
Garwicz
Daniel
D
Nordenskjöld
Magnus
M
Henter
Jan-Inge
JI
Palmblad
Jan
J
Fadeel
Bengt
B
D000380:Agranulocytosis / Q000235:genetics / Q000266:history* / Q000503:physiopathology; D049673:History, 20th Century; D006801:Humans; D009503:Neutropenia / Q000151:congenital / Q000266:history*; D013548:Sweden