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• W1801883537 abstract "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. Conclusion: Future studies should aim to clarify the mechanisms underlying the evolution of secondary malignancies in these patients." @default.
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• W1801883537 date "2007-05-24" @default.
• W1801883537 modified "2023-10-17" @default.
• W1801883537 title "Kostmann syndrome or infantile genetic agranulocytosis, part two: understanding the underlying genetic defects in severe congenital neutropenia" @default.
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• W1801883537 doi "https://doi.org/10.1111/j.1651-2227.2007.00274.x" @default.
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