Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021390 (inflammatory bowel disease)
23,302 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One hundred and twenty-eight of 145 patients with ankylosing spondylitis (AS) were found to be HLA B27 positive. Five patients had evidence of a sero-negative peripheral arthritis resembling peripheral psoriatic arthritis and 3 of these were B27 negative. One further B27 negative patients had a sister with ankylosing spondylitis and ulcerative colitis and a mother with ulcerative colitis. There was evidence of a somewhat later age of onset of symptoms in B27 negative patients. These findings are interpreted as suggesting some degree of clinical and genetic heterogeneity in ankylosing spondylitis with genes for psoriasis and inflammatory bowel disease being important in some individuals, particularly those who are B27 negative. Twenty-five first-degree relatives with ankylosing spondylitis were all B27 positive. The only instance of disassociation of B27 and spondylitis in a family was where the proband had ulcerative colitis as well as spondylitis. Of 13 B27 positive fathers 3 could be diagnosed as having definite ankylosing spondylitis (23%). These findings are thought to provide evidence against the concept that the gene for ankylosing spondylitis is not B27 but a closely linked gene and favour the occurrence of an environmental event affecting approximately one-fifth of B27 positive males to result in disease.
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PMID:HLA B27 and the genetics of ankylosing spondylitis. 10 68

To establish the prevalence of peripheral arthritis, radiographic sacroiliitis, and ankylosing spondylitis in patients with inflammatory bowel disease, 58 consecutive patients suffering from ulcerative colitis (UC) and 51 with Crohn's disease (CD) underwent a detailed rheumatological examination. In addition, all patients were screened for the presence of the antigen HLA B27. Peripheral arthritis was found in 14 (8 UC, 6 CD) patients (12.8%); radiographic sacroiliitis was diagnosed in 11 (5 UC, 6 CD) (10.1%), of whom 10 were asymptomatic; and ankylosing spondylitis was diagnosed in 2 UC and 2 CD patients (3.7%). 18.9% of the UC and 3.9% of the CD patients were HLA B27 positive. One of the 11 patients with radiographic sacroiliitis and 2 of the 4 with ankylosing spondylitis had the HLA B27 antigen. Peripheral arthritis, radiographic sacroiliitis, and ankylosing spondylitis are apparently frequent manifestations in patients suffering from inflammatory bowel disease. Asymptomatic radiographic sacroiliitis in these patients appears to differ from idiopathic ankylosing spondylitis, both clinically and genetically. Evaluation of subjective rheumatological complaints, necessary for a confident diagnosis of ankylosing spondylitis, according to the New York criteria is difficult during a flare-up of the inflammatory bowel process, as was shown in 4 CD cases with marked limitation of lumbovertebral function and chest expansion, but no radiological abnormalities of the SI joints.
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PMID:Ankylosing spondylitis and inflammatory bowel disease. II. Prevalence of peripheral arthritis, sacroiliitis, and ankylosing spondylitis in patients suffering from inflammatory bowel disease. 62 1

A study was made, in co-operation with several gastroenterology and rheumatology centres, of the clinical and genetic characteristics (HLA B27) of 50 patients suffering from both inflammatory bowel disease (38 Crohn's disease (CD), 12 ulcerated colitis (UC)) and ankylosing spondylitis (AS), the latter diagnosis being established according to the New York criteria. 20 CD (52.6%) and 8 UC (66.7%) patients were HLA B27 positive. The presence of HLA B27 was studied in relation to clinical parameters, such as first occurrence of symptoms of AS or inflammatory bowel disease (IBD), a history of peripheral arthritis, iridocyclitis, and a positive history of AS or IBD. Our patients were found to have heterogeneous clinical features: on one side of the spectrum a group of cases was distingiushed with the typical characteristics of idiopathic AS, often being HLA B27 positive. On the other side a smaller group of HLA B27 negative patients was observed, with severe intestinal inflammatory pathology, lacking most of the typical clinical features of idiopathic AS ('secondary' form of AS). Finally, between these two extremes a group of patients was found with less pronounced clinical or genetic characteristics. These different clinical and histocompatibility patterns suggest a mixed aetiopathogenesis of AS in IBD patients. Such a 'syndrome' of AS might harbour both idiopathic AS and forms of AS 'secondary' to the intestinal inflammatory pathology.
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PMID:Ankylosing spondylitis and inflammatory bowel disease. III. Clinical characteristics and results of histocompatibility typing (HLA B27) in 50 patients with both ankylosing spondylitis and inflammatory bowel disease. 62 2

A patient with inflammatory bowel disease and sacroiliitis had haplotypes A10,B18 and Aw32,b18 at the major histocompatibility locus. Serum total complement and C2 hemolytic complement activities were undetectable; levels of the remaining C1-C9 components were normal. The parents, both siblings, and a child each had half-normal levels of C2 and either the A10,B18 or the Aw32,b18 hla haplotype. In a second unrelated family, an only child and both parents developed inflammatory bowel disease. The father and child had HLA haplotype A10,B18, but, along with the mother, each had normal serum levels of hemolytic C and C2. Homozygous C2 deficiency, often in association with the A10,B18 haplotype, has previously been linked with various autoimmune diseases and with propensity to infection. Our findings suggest that C2 deficiency or this haplotype also may predispose to inflammatory diseases of the intestine.
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PMID:Inherited deficiency of second component of complement and HLA haplotype A10,B18 associated with inflammatory bowel disease. 66 36

HLA B27 has been tested systematically in 246 patients attending a rheumatology clinic for chronic inflammatory arthritis or spondylitis. Patients were allocated to nine groups: typical ankylosing spondylitis, ankylosing spondylitis with moderate involvement without peripheral arthritis, ankylosing spondylitis with moderate involvement and with peripheral arthritis, juvenile chronic arthritis, Reiter's syndrome, Yersinia arthritis, arthropathies of inflammatory bowel disease, psoriatic arthritis, seronegative and seropositive rheumatoid arthritis. Except for seropositive rheumatoid arthritis, a significant association with HLA B27 antigen was found in all groups. In the seronegative rheumatoid arthritis group HLA B27 was present in 40% of the cases in contrast to 5.6% of the seropositive rheumatoid arthritis cases. These data confirm that a wide range of the so called "seronegative arthropathies" are associated with HLA B27 and suggest that sex and HLA B27 antigen are important factors in the manifestation of rheumatic disease. Women had less severe spondylitic changes but more peripheral arthritis of the small joints. Ankylosing spondylitis in its various forms had a comparable sex distribution despite relatively mild disease in females. The mean age of onset in the HLA B27 associated diseases was found to be significantly lower than in the seropositive rheumatoid arthritis group.
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PMID:A systematic survey of the HLA B27 prevalence in inflammatory rheumatic diseases. 73 94

In 89 patients with inflammatory bowel disease, only one out of 11 patients with radiographic sacroiliitis was found to possess the HLA B27 antigen, while three out of four patients with ankylosing spondylitis were B27 positive. This suggests that sacroiliitis in inflammatory bowel disease may not always be a precursor of ankylosing spondylitis.
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PMID:Lack of association of HLA B27 with radiographic sacroiliitis in inflammatory bowel disease. 95 Jun 36

Histocompatibility (HLA) antigen phenotypes have been studied in 100 patients with ulcerative colitis, 100 with Crohn's disease, and 283 normal controls. In addition the incidence of ankylosing spondylitis, sacroiliitis, and "enteropathic" peripheral arthropathy was determined in the patients with inflammatory bowel disease (IBD). There was no significant difference in antigen frequency between patients and controls. However, the incidence of HLA-B27 was increased in the patients complicated by ankylosing spondylitis and/or sacroiliitis in both ulcerative colitis and Crohn's disease. In contrast, none of the 29 IBD patients with "enteropathic" peripheral arthropathy had B27 antigen. Furthermore, ankylosing spondylitis was found more frequently in ulcerative colitis bearing HLA-B27 compared with non-B27 patients (P less than 0-01). The same was found in Crohn's disease, although this difference was not statistically significant. In addition, 12 of 14 ulcerative colitis patients and five out of six Crohn's patients with HLA-B27 had total colitis, compared with the frequency of total colitis in non-B27 patients (P less than 0-024 and less than 0-03 respectively). The data suggest that B27 histocompatibility antigen could be a pathogenetic discriminator between the arthropathies in IBD and may be of prognostic significance with respect to extension and severity of the disease.
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PMID:Histocompatibility antigens in inflammatory bowel disease. Their clinical significance and their association with arthropathy with special reference to HLA-B27 (W27). 100 80

We recently reported the presence of an organ-specific 40 kD colonic protein which acts as an autoantigen(s) in patients with ulcerative colitis. Using a specific monoclonal antibody directed against 40 kD protein (7E12H12, IgM isotype), in conjunction with immunocytochemistry and flow cytometry, we examined the presence of the 40 kD protein on human colon cancer cells, DLD-1, and also characterized the ability of cytokines, IFN-gamma and tumour necrosis factor, to modulate the expression of this protein on these tumour cells. The presence of the 40 kD protein was localized to the plasma membrane; less was present within the cytoplasm. Following exposure to IFN-gamma (10-1000 U/ml), DLD-1 colon tumour cells showed a dose- and time-dependent increase in 7E12H12 antibody associated immunofluorescence, with the maximum 7E12H12 antibody binding observed with 100 U/ml IFN-gamma at 48 h. In contrast, tumour necrosis factor did not alter the levels of anti-40 kD antibody binding over that of control cells. Since IFN-gamma is also known to induce class II major histocompatibility antigens, we examined the possibility of cross-reactivity of HLA class II antigens and Mr 40 kD epitope. Neither pre-incubation of DLD-1 colon tumour cells with anti-HLA class II antibodies followed by 7E12H12 nor co-incubation of both antibodies altered the amount of 7E12H12 antibody binding. Using a direct ELISA, a highly enriched preparation of Mr 40 kD protein reactive to anti-40 kD antibody did not react with HLA class II antibodies. The present results suggest that 40 kD protein is present on DLD-1 human colon tumour cells and that although the 40 kD protein epitope expression is increased by the lymphocyte-derived cytokine, IFN-gamma, the epitope is separate and distinct from the class II HLA antigens. Further studies on the 40 KD protein may elucidate its autoantigenic role in the pathogenesis of inflammatory bowel disease.
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PMID:Expression of the 40 kD protein in DLD-1 colon cancer cells and the effect of cytokines. 137 49

Whipple's disease is a rare multisystem disorder of infectious etiology. Efforts to culture the responsible organism have been unsuccessful. Nucleotide sequencing and amplification of bacterial 16S ribosomal DNA revealed the organism to be most similar to bacteria of the Rhodococcus, Streptomyces, and Arthrobacter genera. Several clinical studies of the long-term use of colchicine for the treatment of familial Mediterranean fever demonstrate its utility for symptom control and prevention of complications by amyloidosis in both adults and children. Normal growth, development, and subsequent fertility were seen in children treated with colchicine. Adult-onset Still's disease has previously been thought to have a generally good outcome, although some patients develop chronic arthritis and disability. No markers have been available for prognosis. A study of 62 patients revealed the presence of polyarthritis, root joint involvement, and rash at initial presentation to be associated with a poorer outcome. Enteropathic arthritis may be seen as a complication of both Crohn's disease and ulcerative colitis. The onset of peripheral arthritis coincides with or follows the onset of bowel symptoms in most cases, whereas spondylitis may precede the onset of inflammatory bowel disease by years. HLA-B27 is present in 50% to 75% of cases of spondylitis. No HLA association with inflammatory bowel disease or peripheral arthritis has been consistently found.
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PMID:Whipple's disease, familial Mediterranean fever, adult-onset Still's disease, and enteropathic arthritis. 138 Feb 77

The clinical features of 61 patients with sclerosing cholangitis were reviewed. This group included 23 patients with biliary tract calculi, commonly considered as excluding the diagnosis of primary sclerosing cholangitis. The aim of this study was to compare these 23 patients (group A) with 38 patients with sclerosing cholangitis free of calculi (group B). Both groups had the following features in common: (i) age at presentation, (ii) incidence of inflammatory bowel disease, (iii) extent of radiological disease, (iv) prevalence of HLA-B8 and DR3 haplotype, (v) incidence of cholangiocarcinoma, and (vi) progression to hepatic transplantation (mean follow up 49.9 months). All patients in group A were symptomatic at diagnosis compared with 23 of the 38 patients (61%) in group B. Recurrent ascending cholangitis occurred in 12 patients in group A (52%) and two patients (5%) in group B. The similarity between the two groups was maintained when the nine patients in group A who developed calculi after sclerosing cholangitis was diagnosed were excluded. It is concluded that choledocholithiasis is part of the spectrum of primary sclerosing cholangitis and that it is not necessary to invoke choledocholithiasis as the initial lesion of the bile ducts in such patients.
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PMID:Sclerosing cholangitis and biliary tract calculi--primary or secondary? 144 63


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