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congenital neutropenia G6PC3 type
Pathology:
- electron microscopy: shows endoplasmic reticulum stress
- myeloid cell leukemia sequence-1 (Mcl-1), an antiapoptotic member of the B-cell lymphoma 2 (Bcl-2) family, is phosphorylated & degraded in affected patients
- this results in accelerated apoptosis of granulocytic precursors
- phagocytic function of neutrophils is preserved.
Genetics:
- autosomal recessvie
- associated with defects in G6PC3
Clinical manifestations:
- neonatal sepsis & other infections
- prominent cutaneous venous pattern
- structural cardiac or urologic abnormalities
Laboratory:
- complete blood count: neutropenia
- bone marrow biopsy: impaired maturation of myeloid series
Complications:
- not associated with clonal hematopoietic disorder
Management:
- treatment with recombinant human G-CSF increases neutrophil count
General
familial neutropenia
References
- Boztug K et al.
A syndrome with congenital neutropenia and mutations in G6PC3.
N Engl J Med 2009 Jan 1; 360:32.
PMID: 19118303
- Dale DC and Link DC.
The many causes of severe congenital neutropenia.
N Engl J Med 2009 Jan 1; 360:3.
PMID: 19118300