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. Conclusion: Future studies should aim to clarify the mechanisms underlying the evolution of secondary malignancies in these patients.

Nyckelord

Apoptosis/genetics

DNA-Binding Proteins/genetics

Genes; Recessive

Granulocyte Colony-Stimulating Factor

Humans

Infant

Leukemia/genetics

Leukocyte Elastase/genetics

Mutation

Myeloid Progenitor Cells/physiology

Neoplasms; Second Primary/etiology

Neutropenia/congenital/*genetics

Pedigree

Proteins/genetics

Receptors; Granulocyte Colony-Stimulating Factor/genetics

Syndrome

Transcription Factors/genetics

MEDICINE

MEDICIN

Publikations- och innehållstyp

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