Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in 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 revealed mutations in ELA-2, encoding the neutrophil granule protease, neutrophil elastase, in autosomal dominant neutropenia, and mutations in HAX-1, encoding an anti-apoptotic protein, in autosomal recessive neutropenia.


CONCLUSIONS
Future studies should aim to clarify the mechanisms underlying the evolution of secondary malignancies in these patients.
Carlsson
Göran
G
Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska University Hospital, Stockholm, Sweden.
Melin
Malin
M
Dahl
Niklas
N
Ramme
Kim Göransdotter
KG
Nordenskjöld
Magnus
M
Palmblad
Jan
J
Henter
Jan-Inge
JI
Fadeel
Bengt
B
D048868:Adaptor Proteins, Signal Transducing; D017209:Apoptosis / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005808:Genes, Recessive; D016179:Granulocyte Colony-Stimulating Factor; D006801:Humans; D007223:Infant; D007938:Leukemia / Q000235:genetics; D019272:Leukocyte Elastase / Q000235:genetics; D009154:Mutation; D023461:Myeloid Progenitor Cells / Q000502:physiology; D016609:Neoplasms, Second Primary / Q000209:etiology; D009503:Neutropenia / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics; D016188:Receptors, Granulocyte Colony-Stimulating Factor / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; C104759:HAX1 protein, human; C489892:IGHMBP2 protein, human; D011506:Proteins; D016188:Receptors, Granulocyte Colony-Stimulating Factor; D014157:Transcription Factors; D016179:Granulocyte Colony-Stimulating Factor; D019272:Leukocyte Elastase