Autophagia in myeloid precursors: an explanation for neutropenia in Chediak-Higashi syndrome?
Neutropenia is an almost constant feature of Chediak-Higashi syndrome (CHS). There is evidence for a central mechanism of neutropenia. Ultrastructural studies of the bone marrow from a child with CHS showed marked autophagic phenomena within myeloid precursor cells and mature neutrophils. Autophagic vacuoles were randomly distributed in the cytoplasm of the cells from the granulocytic series and some of them contained giant granules which thus appeared particularly resistant to the autophagic process. The vital cellular damage through endophagocytosis suggests the possibility of intramedullary destruction as an explanation for neutropenia.
D000380:Agranulocytosis; D001853:Bone Marrow / Q000648:ultrastructure*; D001854:Bone Marrow Cells; D002609:Chediak-Higashi Syndrome / Q000097:blood*; D003593:Cytoplasm / Q000648:ultrastructure; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007223:Infant; D009503:Neutropenia; D009504:Neutrophils / Q000648:ultrastructure; D014617:Vacuoles / Q000648:ultrastructure