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neutropenia severe congenital autosomal dominant type 2
Pathology:
- disorder of hematopoiesis
- maturation arrest of granulopoiesis at the level of promyelocytes
Genetics:
- associated with defects in GFI1
Clinical manifestations:
- early onset of severe bacterial infections
Laboratory:
- absolute neutrophil counts < 500/uL
General
familial neutropenia
Database Correlations
OMIM 613107
References
OMIM :accession 613107