title: Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease.
abstract: Tumor necrosis factor-a (TNF-a) levels were measured in the plasma of patients with different types of Gaucher disease (GD) and patients with other lysosomal storage diseases. The highest TNF-a levels were observed in the most severe neuronopathic type of GD, exceeding those found in healthy individuals as well as patients with other lysosomal disorders. Type I GD cases showed a wide range of TNF-a levels ranging from normal to 2.5 x the highest control value. TNF-a is a pleiotropic cytokine produced mainly by activated macrophages. Our data suggest that it may play a role in the pathophysiology of GD disease.
authors.affiliation: Department of Enzymology and Cellular Function, Ag. Sophia Children's Hospital, Athens, Greece.
authors.forename: H
authors.initials: H
authors.lastname: Michelakakis
authors.forename: C
authors.initials: C
authors.lastname: Spanou
authors.forename: A
authors.initials: A
authors.lastname: Kondyli
authors.forename: E
authors.initials: E
authors.lastname: Dimitriou
authors.forename: S
authors.initials: S
authors.lastname: Van Weely
authors.forename: C E
authors.initials: CE
authors.lastname: Hollak
authors.forename: M H
authors.initials: MH
authors.lastname: Van Oers
authors.forename: J M
authors.initials: JM
authors.lastname: Aerts
mesh_terms: D005776:Gaucher Disease / Q000097:blood*; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D008361:Mannosidases / Q000097:blood; D014409:Tumor Necrosis Factor-alpha / Q000378:metabolism*; D043323:alpha-Mannosidase; D001619:beta-N-Acetylhexosaminidases / Q000097:blood
chemical_list: D014409:Tumor Necrosis Factor-alpha; D006596:Hexosaminidases; D008361:Mannosidases; C086400:chitotriosidase; D043323:alpha-Mannosidase; D001619:beta-N-Acetylhexosaminidases