Kostmann syndrome

Kostmann syndrome also known as Severe Congenital Neutropenia (SCN) is a rare inherited form of Severe Chronic Neutropenia usually detected soon after birth. It was discovered in 1956 by Swedish doctor Kostmann. An absolute neutrophil count (ANC) chronically less than 500/mm3 is the main sign of Kostmann's. A standard bone marrow test can give correct diagnosis.

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Morphology: bone marrow usually shows the presence of early granulocytes (promyelocyte/myelocyte arrest) but few maturing forms are seen; neutrophil survival is normal.

Pathophysiology: though the underlying genetic defect in myeloid precursor cells is not entirely elucidated, mutations in the gene (ELA2) encoding neutrophil elastase appear to be present in most patients. These mutations may be responsible for the untimely initiation of apoptosis in myelocytes, producing their premature destruction, and interrupting the normal cycle of maturation. There may be, in addition, other underlying molecular/genetic changes producing DNA mutations and genome instability, which contribute to initiation and progression of this disease.

References

• KOSTMANN R (1956). "Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria.". Acta Paediatr 45 (Suppl 105): 1-78. PMID 13326376.

Christensen and Calhoun, 2004. Christensen RD, Calhoun DA: Congenital neutropenia. Clin Perinatol 2004; 31:29-38.

Zeidler and Welte, 2002. Zeidler C, Welte K: Kostmann syndrome and severe congenital neutropenia. Semin Hematol 2002; 39:82-88.

See also

• Neutropenia
• Granulocyte colony-stimulating factor

Support Groups:

Severe Chronic Neutropenia International Registry

Neutropenia.ca