title: The monocyte-macrophage system is affected in lysosomal storage diseases: an immunoelectron microscopic study.
abstract: Studying peripheral blood mononuclear cells (PBMCs) has become an important diagnostic tool in lysosomal storage diseases. Previous studies revealed that B and subclasses of T lymphocytes participate in the storage process, whereas the role of circulating monocytes was not clear. In this study, the involvement of CD14+ monocytes in lysosomal diseases was investigated. Blood samples from six patients with different lysosomal storage disorders were studied, including one with late--infantile and three with juvenile neuronal ceroid--lipofuscinoses, and two with mucopolysaccharidosis type VI. CD14+ cells were separated immunomagnetically from PBMCs and studied by light and electron microscopy. In all investigated disorders, disease-specific lysosomal storage material could be found in monocytes. The ratio of affected to non-affected cells did not differ from previously reported data on lymphocytes and their subforms in these diseases. Our data were obtained by studying a small number of different lysosomal storage disorders. Nevertheless, they suggest that lysosomal storage in the monocyte-macrophage system might also be found in other forms of lysosomal diseases.
authors.affiliation: Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA.
authors.forename: B C
authors.initials: BC
authors.lastname: Kieseier
authors.forename: K E
authors.initials: KE
authors.lastname: Wisniewski
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
mesh_terms: D006801:Humans; D018950:Lipopolysaccharide Receptors / Q000276:immunology; D016464:Lysosomal Storage Diseases / Q000276:immunology* / Q000473:pathology; D008264:Macrophages / Q000276:immunology* / Q000648:ultrastructure; D016253:Microscopy, Immunoelectron; D009000:Monocytes / Q000276:immunology* / Q000648:ultrastructure; D009087:Mucopolysaccharidosis VI / Q000276:immunology / Q000473:pathology; D009472:Neuronal Ceroid-Lipofuscinoses / Q000276:immunology / Q000473:pathology
chemical_list: D018950:Lipopolysaccharide Receptors