Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01889 (ankylosing spondylitis)
 5,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rheumatoid arthritis and ankylosing spondylitis were detected in the same patient after a long period of observation of the disease. X-ray studies demonstrated the characteristic rheumatoid arthritis changes in peripheral joints. By contrast, few X-ray changes of ankylosing spondylitis were detected, during follow-up. Diagnostic approach through scintigraphic studies disclosed a symmetric uptake of the radionuclide in sacroiliac joints, and computed tomography revealed bilateral ankylosis. The combination of these tests was useful to define the presence of axial disease. This patient was both HLA B27 and DR4 positive. Rheumatoid arthritis occurred before ankylosing spondylitis, that interestingly was defined as a late onset disease.
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PMID:Rheumatoid arthritis associated with ankylosing spondylitis defined by scintigraphic and CT abnormalities. 148 55

The association of certain autoimmune diseases with HLA molecules is being refined through the use of sequence-specific oligonucleotide probes and amino acid sequencing, together with continuing elucidation of the functional features of HLA molecules derived from the milestone description by Bjorkman of the HLA molecular structure. The association of insulin-dependent diabetes mellitus and HLA began with weak associations of Class I antigens (B8 and B15) and progressed to Class II antigens (DR3 and DR4), then to subtypes of DR4 (Dw4, 10, and 14), and now to DQ molecules including the absence of aspartic acid at position 57 of the DQ beta chain and the presence of arginine at position 52 of the DQ alpha chain. In rheumatoid arthritis (RA) the HLA antigen association remains with certain Class II molecules of the DR series (DR4 and DR1) that share amino acid sequences with a restricted number of other DR antigens seen in RA, as well as a segment of the gp 110 protein of the Epstein-Barr virus. Although ankylosing spondylitis has a strong association with the Class I antigen B27, that association is not explained by any of the B27 subtypes defined by monoclonal antibodies, by the eight variable amino acids in B27 subtypes, or by the two unique amino acids on B27. The remarkable antibody cross-reactivity among lymphocytes bearing B27, a synthetic peptide sequence (63-84) of B27, and the 188-193 sequence of K. pneumoniae nitrogenase has provided strong support for molecular mimicry being an important mechanism in the association of HLA molecules with disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:HLA molecules in autoimmune diseases. 163 34

Acute anterior uveitis (AAU) is associated with HLA-B27 in 50% of the patients. Although the association between HLA-B27 and AAU is evident, other genetic factors probably also play a pathogenic role. To investigate whether HLA-B27 only serves as a marker gene for genes next to the B-locus, class I and II HLA antigens of 62 HLA-B27+ AAU patients were determined. Increased frequencies were found for HLA-Cw1, Cw2, DR4, DRw12 and DQw3 if the AAU patients were compared with normal controls. However, when the data were compared to a group of HLA-B27+ controls, no differences were observed. The supposed associations were therefore probably due to linkage disequilibrium with HLA-B27. Homozygosity for HLA-B27 seemed not to increase the chance to acquire AAU. HLA-DR4 was present less frequently in AAU patients with ankylosing spondylitis than in AAU patients without this disease. Haplotype analysis of 21 families revealed that not all relatives suffering from AAU shared the HLA-B27+ haplotype with the proband. Of seven relatives suffering from AAU, five carried the same HLA-B27+ haplotype as the proband, one had inherited another HLA-B27+ haplotype and the last one was HLA-B27-. In conclusion, we could not bring forward any reason to suggest that genes on the short arm of chromosome 6--other than HLA-B27--play a role in the pathogenesis of HLA-B27+ AAU.
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PMID:HLA-B27+ acute anterior uveitis and other antigens of the major histocompatibility complex. 279 56

Between classical, erosive, seropositive rheumatoid arthritis (RA) on one hand, and typical, axial ankylosing spondylitis (AS) on the other, there is a variety of seronegative polyarthritides, which are often difficult to diagnose, classify and also to distinguish from each other. During our studies of HLA antigens and their associations with rheumatic diseases, and particularly that of DR4 with RA, we became increasingly concerned with the problem of defining properly patients with seronegative RA. Both the statement of seronegativity with regard to rheumatoid factors (RF), the diagnosis of RA, and particularly the exclusion of cases of seronegative arthritis other than RA were difficult. We felt that such problems might explain the conflicting opinions as to the association between RF and HLA-DR4 in patients with RA. As a basis for discussing these problems, a set of criteria for RF seronegative RA are presented.
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PMID:What is seronegative rheumatoid arthritis? 326 62

A patient is described who had insulin-dependent diabetes mellitus for 2 years, prior to developing rheumatoid arthritis and then subsequently ankylosing spondylitis and dermatomyositis. Diagnostic criteria for all diseases are fulfilled. HLA typing revealed the presence of HLA A2, A9, B8, B27, DR3 and DR4 antigens. The concomitant coexistence of diabetes mellitus, rheumatoid arthritis, ankylosing spondylitis and dermatomyositis appears to have occurred in an individual genetically susceptible to these diseases.
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PMID:Coexistence of rheumatoid arthritis, ankylosing spondylitis and dermatomyositis in a patient with diabetes mellitus and the associated linked HLA antigens. 336 34

HLA haplotypes (including A, B, C and DR loci) were studied in a family with members who had both rheumatoid arthritis (RA) and ankylosing spondylitis (AS). Sacroiliitis was found in 7 family members, one of whom had AS and 2 others erosive, seropositive RA. They carried the B27-DR4 haplotype, suggesting a possible dual genetic association of the same haplotype in both RA and AS. Three other different HLA-B27 containing haplotype were found, 2 of which could be associated with sacroiliitis/AS. Within this family sacroiliitis and/or AS rather seemed associated with the B27 antigen itself than with the same haplotype.
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PMID:HLA haplotypes in a family with ankylosing spondylitis and rheumatoid arthritis. 387 35

A patient developed both ankylosing spondylitis and rheumatoid arthritis, each of which responded to D-penicillamine or gold sodium thiomalate and indomethacin, respectively. The patient was both HLA-B27 and -DR4 positive. In addition, he was found to have Paget's disease of bone, which has required no treatment.
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PMID:Ankylosing spondylitis and rheumatoid arthritis in a patient with Paget's disease. Differential effects of indomethacin, D-penicillamine, or gold sodium thiomalate in the respective arthritides. 392 8

Serum antibodies reactive with the keratin layer of rat esophagus (AKA) were found in 46 of 80 (57.5%) rheumatoid arthritis (RA) patients. In contrast, AKA were present in only 7 of 82 (9.5%) patients with other types of rheumatic disorders and in 2 of 47 (4.2%) healthy subjects. AKA were not specific for RA, however, because in the former group, AKA were present in 4 of 20 (20%) systemic sclerosis patients and in 3 of 12 (25%) ankylosing spondylitis patients. AKA belong predominantly to the IgG class and are complement fixing. Although found in some RA joint fluids, AKA were not selectively concentrated in the joint fluid. Absorption of RA serum with type I human collagen or with human epidermal keratin did not remove AKA activity. The frequency of AKA in RA patients both negative and positive for DR4 was equal. There was no relationship between the frequency of AKA and the occurrence of other serum autoantibodies such as antibodies to intermediate filaments, smooth muscle, and nuclear antigens. Serum antibody reactive with human stratum corneum found in patients with psoriatic arthritis was shown to be different from AKA. Rabbit antiserum to human keratin did not inhibit the reaction of AKA against the keratin layer of rat esophagus. Autoimmunity to structural proteins including collagen, vimentin intermediate filaments, smooth muscle antigens, and keratin is a characteristic feature of RA.
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PMID:Reactivity of serum antibodies to the keratin layer of rat esophagus in patients with rheumatoid arthritis. 618 70

Within the last 7 years, HLA and disease studies have made it clear that most of the diseases previously known to be HLA-A- or B-associated do in fact show stronger associations with HLA-D/DR antigens. This observation strengthens the assumption that Ir and/or Is determinants are responsible for these associations in agreement with the fact that many of these diseases are characterized by autoimmune phenomena. However, some diseases, ankylosing spondylitis in particular, still show stronger associations with HLA-ABC than with DR antigens. Among the conditions which have been shown to be HLA-associated more recently, four deserves special mention: (i) maternal immunization against the Zwa antigen because this is a good candidate for an antigen-specific Ir gene action; (ii) IgA deficiency in blood donors because this is a non-antigen-specific immunodeficiency; (iii) idiopathic hemochromatosis and (iv) congenital adrenal hyperplasia due to 21-OH deficiency because immune mechanisms are unlikely to be involved. HLA studies and new genetic methodology have significantly advanced our knowledge about the inheritance of some diseases. Thus, HLA-B27 or a B27-associated HLA factor confers a dominant susceptibility to ankylosing spondylitis. HLA plays a definite and strong role in the susceptibility to IDDM, but simple genetic models (dominant, recessive, and intermediate) have been made unlikely on the basis of HLA results; the hypothesis that there are two different susceptibility genes within the HLA system still remains viable, but the demonstration of clinical heterogeneity and/or (better) of different pathogenetic pathways for DR3- and DR4-associated IDDM is required to substantiate it.
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PMID:HLA and disease 1982--a survey. 633 68

Both rheumatoid arthritis (RA) and ankylosing spondylitis (AS) have an increased familial occurrence and each disease is associated with the inheritance of specific HLA antigens. We report a pair of identical twin brothers with discordant disease phenotypes: one developed AS at the age of 26, and the other developed RA at the age of 55. The twins possessed both of the disease susceptibility antigens HLA B27 and DR4. Differences in the twins' environmental exposure are discussed.
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PMID:An identical twin pair discordant for rheumatoid arthritis and ankylosing spondylitis. 840 90


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