Cytokines in Gaucher's disease.

Abstract	Gaucher's disease (GD) is characterized by hepatosplenomegaly, bone marrow infiltration, osteonecrosis, which may all be associated with the presence of pathological macrophages that contain undegraded glycosphingolipids. Levels of serum cytokines, which are soluble products of mononuclear phagocytes (MNP), were evaluated in 24 GD patients. Levels of interleukin-1beta (IL-1beta), interleukin-1 receptor antagonist (IL-1Ra), interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-alpha), and soluble interleukin-2 receptor (sIL-2R) in GD patients were significantly higher than in normal controls. We attempted to correlate cytokine levels with disease severity. Type I GD patients with more severe clinical manifestations had significantly higher levels of IL-1beta, IL-1Ra and IL-6, relative to type I patients with milder disease. Three patients homozygous for the 1448C mutation with neuropathic type III disease, had significantly higher levels of sIL-2R than type I patients or controls. We speculate that cytokine over-expression may relate to the pathophysiology of some of the clinical manifestations of GD. Thus, the elevated IL-1beta, TNF-alpha and IL-6 levels may induce the bone manifestations, the neutrophil chemotaxis and the increased incidence of hyper-gammaglobulinemia present in GD patients.
Authors	V Barak, M Acker, B Nisman, I Kalickman, A Abrahamov, A Zimran, S Yatziv
Journal	European cytokine network (Eur Cytokine Netw) Vol. 10 Issue 2 Pg. 205-10 (Jun 1999) ISSN: 1148-5493 [Print] France
PMID	10400826 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	Cytokines IL1RN protein, human Interleukin 1 Receptor Antagonist Protein Interleukin-1 Interleukin-6 Receptors, Interleukin-2 Sialoglycoproteins Tumor Necrosis Factor-alpha
Topics	Chemotaxis, Leukocyte Child, Preschool Cytokines (blood, physiology) Gaucher Disease (blood, classification, genetics, immunology, physiopathology) Genotype Humans Hypergammaglobulinemia (etiology) Infant Interleukin 1 Receptor Antagonist Protein Interleukin-1 (blood) Interleukin-6 (blood) Point Mutation Receptors, Interleukin-2 (blood) Severity of Illness Index Sialoglycoproteins (blood) Solubility Splenectomy Tumor Necrosis Factor-alpha (analysis)

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