title: Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in 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 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.
authors.affiliation: Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Göran
authors.initials: G
authors.lastname: Carlsson
authors.forename: Malin
authors.initials: M
authors.lastname: Melin
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
authors.forename: Kim Göransdotter
authors.initials: KG
authors.lastname: Ramme
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: Jan
authors.initials: J
authors.lastname: Palmblad
authors.forename: Jan-Inge
authors.initials: JI
authors.lastname: Henter
authors.forename: Bengt
authors.initials: B
authors.lastname: Fadeel
mesh_terms: 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
chemical_list: 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