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congenital neutropenia type 3 (Kostmann disease)
Pathology:
- primary immunodeficiency syndrome
- increased apoptosis in myeloid cells
Genetics:
- autosomal recessive
- associated with defects in HAX1
Clinical manifestations:
- severe congenital neutropenia
- life-threatening bacterial infections
Laboratory:
- complete blood count: neutropenia
- peripheral blood smear: few mature neutrophils
- bone marrow biopsy: few mature neutrophils
General
familial neutropenia
Database Correlations
OMIM 610738
References
OMIM :accession 610738