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Kostmann disease


Friday 21 September 2007

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).


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.



Differential diagnosis

- recessively inherited neutropenic syndromes


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- 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