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At least 883 records · Page 49Linked to original sources
PubMed1993

Serological and immunogenetic markers of extraglandular primary Sjögren's syndrome.

The clinical course of 48 patients with primary Sjögren's syndrome (primary SS) was reviewed. Forty-three north European patients were typed for HLA class I and class II alloantigens. In this population with primary SS HLA B8, DR3 and DRw52 all occurred more frequently than in the control population (P < 0.009, P < 0.0035, P < 0.02 respectively). The subgroup of primary SS patients with antibodies to Ro and/or La antigen had the greatest prevalence of DR3 (relative risk 33.4). The primary SS patients fall into two distinct groups: those with extraglandular disease in whom lymphopaenia, hypergammaglobulinaemia, antibodies to Ro and/or La and HLA DR3 were all more frequent and those patients with either glandular disease alone or only one extraglandular feature. There was no difference in disease duration between the two groups, although on average the latter group were 10 years older.

Adolescent↗
PubMed1991

The immunogenetics of hereditary hemochromatosis.

Hereditary hemochromatosis (HH), an iron overload disease caused by unregulated intestinal iron absorption, is a recessive HLA-linked disease. HH is the most common inherited metabolic disorder with one of every 400 to 500 individuals having both genes and being likely to develop the disease. Thus, although the product of the hemochromatosis gene is unknown, its mode of inheritance allows HLA-genotyping of the proband and his/her siblings to be highly predictive of the genetic propensity to develop the clinical features of HH. In view of the known immunoregulatory properties of iron and its binding proteins, it is important to determine if the high levels of storage iron in HH influence the immunosurveillance network in HH patients and whether that has any clinical relevance. We have defined certain alterations of the effector cells of the cellular arm of the immune system and have studied a patient with HH who had specific immune alterations, including delayed cutaneous-type hypersensitivity anergy, and was diagnosed with poorly differentiated adenocarcinoma of the stomach four years after his HH diagnosis. Those findings are consistent with the interpretation that in certain clinical situations of elevated body iron stores, the immunoregulatory balance or environment may be tipped in favor of growth and development of cancer cells.

Ferritins↗
PubMed1992

The immunogenetic component of susceptibility to rheumatoid arthritis.

The precise nature of the HLA element associated with rheumatoid arthritis has been identified as a short sequence of amino acids on the alpha helix of a range of DR beta alleles. Recently the range of alleles known to bear this sequence and to be associated with rheumatoid arthritis has increased considerably. Although these findings lend further weight to the validity of the original hypothesis, they have also made it very difficult to propose a mechanism for the association. It has also become clear that the simple model of dominant susceptibility is unsatisfactory. Patients with early disease show little or no association with any HLA alleles, whereas patients with severe forms of rheumatoid arthritis are frequently homozygous for DR4, showing a disproportionate tendency toward compound heterozygocity--expressing two different molecules sharing the conserved sequence.

Arthritis, Rheumatoid↗
PubMed1999

Immunogenetics, HLA-B27 and spondyloarthropathies.

HLA-B27 is the strongest HLA molecule associated with a disease. However, the reason only a small fraction of HLA-B27 positive individuals develop spondyloarthropathies is still unknown. Recent advances in genetics support the fact that additional genetic factors influence the disease and that the environmental factors may be ubiquitous. The mechanism of association of HLA-B27 and disease remains unknown, but recent studies reveal some peculiar properties of accessory molecules in antigen presentation of B27. Furthermore, research has focused on the analysis of HLA-B27-restricted processing and presentation of a bacteria-derived peptide as playing a key role in the development of spondyloarthropathy. Other studies support a more complex interaction between bacteria and HLA-B27 and suggest that other roles unrelated to antigen presentation might contribute to the development of SpA.

Animals↗
PubMed1987

Serositis with autoimmune endocrinopathy: clinical and immunogenetic features.

Twenty patients with autoimmune endocrinopathies experienced 45 episodes of pleural and/or pericardial serositis. Seventeen of these patients were women and 15 had clinical or serologic evidence of 2 or more endocrinopathies. Idiopathic primary hypoadrenalism (10 cases), Graves' disease (8 cases), Hashimoto's disease (4 cases), atrophic thyroiditis with hypothyroidism (3 cases), idiopathic primary hypogonadism (3 cases), transient thyroiditides (2 cases), and type I diabetes mellitus (1 case) were diagnosed at a mean age of 24 years. Serositis recurred after asymptomatic intervals of months to years even in patients treated for endocrine dysfunction. Fourteen of 16 Caucasians had circulating immune complexes, including all 9 patients with a C4AQ0 (C4A null) phenotype and including all 12 patients with HLA antigens B8 and DR3, antigens associated with systemic lupus and with autoimmune endocrinopathies. Serositides associated with autoimmune endocrinopathies can occur with chest pain, fever, and exudative effusions in young Caucasian women with the HLA B8 DR3 C4AQ0 phenotype. These serositides may have a common pathophysiologic mechanism.

Adolescent↗
PubMed1992

The clinical and immunogenetic features of patients with autoantibodies to the nucleolar antigen PM-Scl.

The clinical and laboratory features of 32 patients with anti-PM-Scl were studied. Patients with this rare autoantibody suffered from a homogenous overlap connective tissue disease defined by Raynaud phenomenon (32/32), features of scleroderma (31/32), arthritis (31/32, erosive in 9/32), myositis (28/32), lung restriction (25/32), calcinosis (15/32), and sicca (11/32). Significant renal and neurologic involvement was uncommon. All patients examined (22/22) had HLA-DR3, and 50% of these patients were homozygous. Our patients responded favorably to moderate immunosuppression and, with therapy, the disease generally has a good prognosis; over 50% of our series (17/32) remained well on minimal or no immunosuppression after a median follow-up of 8 years.

Adolescent↗
PubMed1976

Immunogenetic analysis of H-2 mutations. V. Serological analysis of mutations H-2da, H-2ra, and H-2ka1.

The H-2 and Ia antigenic composition of strain pairs B10.D2 (H-2d) and M504 (H-2da). A.CA (H-2f) and M506 (H-2fa), and CBA (H-2k) and M523 (H-2ka) was compared by testing their cells against a battery of oligospecific antisera, by performing absorption analysis, and by cross-immunization. The two strains of each pair are congenric and differ in taht the second strain of the pair carries a mutation that occurred in the H-2 haplotype of the first strain. The Ia composition of each mutant haplotype was found to be the same as that of the haplotype from which the mutant was derived. Several differences in the serologically detectable H-2 antigens were found. The H-2d and H-2da haplotypes were found to differ in that the latter lost at least one and gained another antigen. The affected antigens were demonstrated to be classic H-2 antigens controlled by the H-2D locus. The H-2t and H-2fa haplotypes were found to differ in that antigens 26, 37, and 39, controlled by the latter, bound their respective antibodies less firmly than those controlled by the former haplotype. Since all three antigens are coded for by the H-2K locus, since no change was found in the D-region controlled antigens, and since the H-2fa mutation maps in the K end, we conclude that most likely the mutation occurred in the K region. The H-2k and H-2ka haplotypes were found to differ in that the latter lost one antigen encoded by the H-2Kk allele. This mutation, therefore, must have occurred in the H-2K locus. The data tip the scale of evidence in favor of the interpretation that each of the H-2 mutations occurred in a single region, either K or D. No evidence for a second mutation within any of the other H-2 regions was found.

Animals↗
PubMed1978

Non-major histocompatibility system immunogenetic influences in rat renal allograft survival.

H-1-incompatible rat renal allograft survival rates are strongly influenced by the non-major histocompatibility system (MHS) genes. The same H-1 (MHS) incompatibility tested on four different non-MHS backgrounds gave widely differing results ranging from 11 to 60% fractional survival between the best and the poorest (P less than 0.01) at 105 days. These results can best be explained if non-H-1 and intra-MHS amplifiers and/or suppressors are invoked.

Animals↗