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Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2007 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 96, no 6, 813-819 p.Article, review/survey (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2007. Vol. 96, no 6, 813-819 p.
Keyword [en]
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
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-16004DOI: 10.1111/j.1651-2227.2007.00274.xISI: 000246789600009PubMedID: 17537008OAI: oai:DiVA.org:uu-16004DiVA: diva2:43775
Available from: 2008-04-02 Created: 2008-04-02 Last updated: 2017-12-08Bibliographically approved

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Melin, MalinDahl, Niklas

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