congenital hypoplastic neutropenia (Kostmann's syndrome)
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Introduction
Inherited disorder of infancy.
Epidemiology
- Middle-Eastern, African & black persons
Pathology
- neutropenia
- 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]
More general terms
References
- ↑ Saunders Manual of Medical Practice, Rakel (ed), WB Saunders, Philadelphia, 1996, pg 587-89
- ↑ Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999.
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/11001877
- ↑ 4.0 4.1 4.2 Medical Knowledge Self Assessment Program (MKSAP) 16, American College of Physicians, Philadelphia 2012