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FOCUS ON RESEARCH Previous Volume 360:3-5 January 1, 2009 Number 1 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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In 1956, Rolf Kostmann, a Swedish pediatrician, described an autosomal recessive disorder that he called infantile genetic agranulocytosis — which is now called severe congenital neutropenia. The Kostmann form of this disorder is very rare; it is caused by disabling mutations in the HAX1 gene, which encodes HAX1, a mitochondrial protein that inhibits apoptosis (see table).¹ There are also autosomal dominant and sporadic forms of severe congenital neutropenia that are caused by mutations in the ELA2 gene, which encodes the serine protease neutrophil elastase.² ELA2 mutations account for approximately 50 to 60% of cases of the disorder. Rare cases . . . [Full Text of this Article]

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Dr. Dale is a professor of medicine at the University of Washington School of Medicine, Seattle. Dr. Link is an associate professor of medicine, Division of Oncology, Section of Stem Cell Biology, Washington University, St. Louis.

This article has been cited by other articles:

• Beel, K., Vandenberghe, P. (2009). G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia. haematol 94: 1449-1452 [Abstract] [Full Text]  
• (2009). Congenital Neutropenia and G6PC3 Mutations. JWatch Oncology and Hematology 2009: 3-3 [Full Text]