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congenital hypoplastic neutropenia (Kostmann's syndrome)

Inherited disorder of infancy. Epidemiology: - Middle-Eastern, African & black persons Pathology: 1) neutropenia 2) recurrent infections - mild disease not associated with increase risk of infection [4] Genetics: - associated with defects in ELA2 (majority) (autosomal dominant) - associated with defects in GCSFR Complications: - mutations in the ELA2 gene compromise myeloid differentiation & create a risk for development of acute myeloid leukemia - does not progress to more serious stem cell disorder [4]

General

familial neutropenia

References

  1. Saunders Manual of Medical Practice, Rakel (ed), WB Saunders, Philadelphia, 1996, pg 587-89
  2. Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999.
  3. Dale DC et al, Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000 Oct 1;96(7):2317-22. PMID: 11001877
  4. Medical Knowledge Self Assessment Program (MKSAP) 16, American College of Physicians, Philadelphia 2012