Kostmanns syndrome congenital neutropenia

• Autosomal recessive.

• Severe neutropenia with neutrophils <0.2 x 109/L.

• Marrow shows maturation arrest at promyelocyte/myelocyte stage.

• High risk of severe infection in untreated state.

• Not due to germline mutation in G-CSF receptor gene, though abnormal receptor may be present in myeloid precursors.

• 90% will respond to pharmacological doses of G-CSF and continue to do so for years.

• Up to 10% develop AML/MDS—role of G-CSF not clear, but probably complication of disease revealed by longer survival.

Diagnosis

Distinguish from cyclical neutropenia (by observation); benign congenital neutropenia (by WBC) and reticular dysgenesis a severe inherited immunodeficiency with congenital lack of all white cells, including lymphocytes.

Outlook

Good provided response to G-CSF satisfactory and maintained. Non-responders may need BMT. 459

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