Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P15088 (mast cell)
 14,925 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A twelve year-old boy who developed, after a period of strenuous physical work, an illness characterized by thickened skin over his right thigh and hemiabdomen, flexion contractures in right wrist and elbow and in right metacarpophalangeal joints without Raynaud's phenomenon or other visceral symptoms is presented. Pertinent laboratory studies showed hypereosinophilia and hypergammaglobulinemia. Deep-fascia biopsy showed typical findings of fasciitis with eosinophilia. Prednisone therapy resulted in sustained improvement. Periarticular osteopenia of the right hand and mast cell infiltration in fascial biopsy are remarkable features. Authors stress striking differences between fasciitis with eosinophilia or Shulman's syndrome and scleroderma. Clinical picture, laboratory changes, typical histology and a usually rapid response to corticosteroids, as well as some autoimmune diseases possibly associated, suggest a different disease and an immunological pathogenesis. From literature review authors conclude that cases of Shulman's syndrome reported in children are very limited and that this disease should by ruled out in every child with thickened skin changes and articular flexion contractures.
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PMID:[Fasciitis with eosinophilia: Shulman syndrome. Report of a case and review of the literature]. 305 3

In many models of organ-specific autoimmune diseases, mast cells provide a critical cellular link between autoantibodies and end-organ inflammation, both initiating and propagating disease. However, their role in systemic autoimmunity remains speculative. We therefore examined the role of mast cells in a murine model of systemic immune complex-related autoimmune disease, lupus nephritis, expecting to observe the development of humoral autoimmunity in the absence of end-organ disease. Surprisingly, not only did mast cell-deficient animals develop characteristic humoral features of lupus, including hypergammaglobulinemia and autoantibodies, they also developed immune complex glomerulonephritis, as evidenced by renal immune deposits, glomerular disease, and proteinuria. These findings implicate the presence of distinct effector pathways to end-organ damage in humoral autoimmune diseases: one involving the interaction between autoantibodies and mast cells to recruit inflammation in organ-specific autoimmunity, and another involving a more direct--mast cell-independent--interaction between autoantibodies and circulating inflammatory mediators in systemic autoimmunity.
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PMID:Susceptibility of mast cell-deficient W/Wv mice to pristane-induced experimental lupus nephritis. 1501 75