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

More general terms

• familial neutropenia