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Kostmann disease

MIM.610738

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Kostmann disease (MIM.610738) is the autosomal recessive form of severe congenital neutropenia (SCN3). SCN3 is caused by homozygous mutations in the HAX1 gene (MIM.605998).

History

The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections.

Morphology

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Differential diagnosis

- recessively inherited neutropenic syndromes

Reviews

- Lekstrom-Himes, J. A.; Gallin, J. I. : Immunodeficiency diseases caused by defects in phagocytes. New Eng. J. Med. 343: 1703-1714, 2000. PubMed ID : 11106721

References

- Stein R. Insights into the genetics of severe congenital neutropenia. Clin Genet. 2007 Oct;72(4):308-10. PMID: 17850626

- Carlsson G, Melin M, Dahl N, Ramme KG, Nordenskjold M, Palmblad J, Henter JI, Fadeel B. Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia. Acta Paediatr. 2007 Jun;96(6):813-9. PMID: 17537008

- Melin M, Entesarian M, Carlsson G, Garwicz D, Klein C, Fadeel B, Nordenskjold M, Palmblad J, Henter JI, Dahl N. Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden. Biochem Biophys Res Commun. 2007 Feb 16;353(3):571-5. PMID: 17188649

- Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 2007 Jan;39(1):86-92. PMID: 17187068

- Carlsson G, Andersson M, Putsep K, Garwicz D, Nordenskjold M, Henter JI, Palmblad J, Fadeel B. Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia. Acta Paediatr. 2006 Dec;95(12):1526-32. PMID: 17129957

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