Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Animal models of autoimmune disease have been successfully used to explore peripheral stem cell transfusion and bone marrow transplantation. Allogeneic marrow transplants have been shown to suppress lupus-like disease and experimental allergic encephalomyelitis. Autologous transplantation has also been successful in adjuvant arthritis. Operationally, these may be considered as graft versus autoimmunity effects. In humans, adoptive autoimmunity, in which the donor becomes apparent in the recipient, has been documented for myasthenia gravis and insulin dependent diabetes mellitus. Of 9 allogeneic bone marrow transplants for rheumatoid arthritis, 4 patients have done well for many years while one relapsed after 2 years. In 2 cases, autologous marrow transplant has been used specifically to treat autoimmune disease: one patient with CREST had only a transient response and one patient with myasthenia gravis had remission. While allogeneic bone marrow transplant is the most rational procedure, its use in nonmalignant disorders must be very carefully considered secondary to its toxicity and potential morbidity. The use of peripheral blood CD34+ cells with T cell depletion, may promise complete or partial longterm remission but results of this therapy need to be compared with other immunosuppressive combinations.
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PMID:Stem cell transplantation for severe autoimmune disorders, with special reference to rheumatic diseases. 915 Jan 12

Plasma from 126 patients with various autoimmune diseases and 118 healthy subjects were examined to determine the presence of autoantibodies to FKBP12, one of immunophilins. The frequency of IgG and/or IgM anti-FKBP12 autoantibodies detected by ELISA was as follows; SLE (15/39), SSc (11/27), CREST (4/7), RA (2/8), MCTD (0/5), Graves' disease (4/12), IDDM (2/6), PM/DM (0/3), MG (1/4), AIH (2/6), PBC (4/9), and healthy subjects (5/118). The specificity of the autoantibodies was demonstrated by absorption of the plasma samples with r-FKBP12 and other recombinant proteins. In immunoblotting, IgM anti-FKBP12 autoantibodies reacted with two bands of 12 and 24 kD, the latter representing the dimer. Anti-FKBP12 autoantibodies in some patients reacted more strongly with the dimer than the monomer, suggesting that FKBP12 may also exist as the dimer in vivo. The majority of anti-FKBP12 autoantibodies bound to two synthetic peptides corresponding to amino acid residues of FKBP12, Pro16 approximate to Tyr26 and Thr27 approximate to Phe46. These epitopes are phylogenetically well conserved and responsible for the binding to calcineurin and FK506. The autoantibodies inhibited pentamerization of FKBP12 with FK506, calcineurin, calmodulin, and Ca2+ in vitro. These data define the frequent occurrence of a novel set of autoantibodies to a cytosolic protein involved in the regulation of the immune response.
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PMID:Autoantibodies to FK506 binding protein 12 (FKBP12) in autoimmune diseases. 1043 96

A 73-year-old woman had previously been diagnosed with CREST syndrome, PBC and diabetes. Hepatic fibrosis was not evident, in spite of the transudative ascites and active esophageal varices. ACA were positive, whereas AMA and anti-gp210 antibodies were negative. She showed low urinary excretion of C-peptide and was weakly positive for anti-GAD antibody. She was diagnosed with a form of PBC that progresses via portal hypertension rather than liver failure and with SPIDDM. Her HLA type did not contain risk allele for IDDM or PBC. SPIDDM should be considered when patients with PBC with portal hypertension-type progression develop diabetes.
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PMID:Slowly progressive insulin-dependent diabetes in a patient with primary biliary cirrhosis with portal hypertension-type progression. 2221 28