Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “immunogenetics”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 955 records · Page 53Linked to original sources
PubMed1984

Ankylosing spondylitis in North India: a clinical and immunogenetic study.

Fifty-one North Indian patients with ankylosing spondylitis (AS) are described with mean age of onset 21.2 years and male to female ratio of 16:1. AS began with peripheral arthritis in 47%, low back pain in 41%, acute anterior uveitis in 10%, and heel pain in 2% of the patients. 76% of 51 patients had one of the extra-axial features of AS: peripheral arthritis (61%), heel pain (24%), anterior uveitis (22%), urethritis (12%), kidney disease (10%), mucosal ulcerations (6%), aortic incompetence (4%), and apical pulmonary fibrosis (4%). A majority (71%) of the patients with peripheral arthritis had mono- or oligoarthritis affecting mainly the lower limb joints. Two patients had coexistent rheumatoid arthritis also. HLA-B27 antigen was detected in 48 (94%) of 51 patients compared with 7 (6%) of 118 controls (relative risk 254; Fisher's exact p = 3.49(-29]. On comparing patients with juvenile onset AS and patients with adult onset disease we found peripheral arthritis to be more frequent at the beginning and during the course of disease in the former.

Adolescent↗
PubMed1988

Methotrexate in rheumatoid arthritis: a prospective study in Israeli patients with immunogenetic correlations.

In a prospective open study 44 Israeli patients with rheumatoid arthritis were treated with weekly low dose methotrexate (MTX) for up to 36 months. Nine patients withdrew from the study: six because of side effects and three due to inefficacy. One patient died of septicaemia following septic arthritis. Significant improvement, graded by Ritchie articular index, grip strength, physician's global assessment, erythrocyte sedimentation rate (ESR), and platelet counts, was noticed in response to treatment. Seronegative patients had a better clinical response. Transient gastrointestinal symptoms were common and correlated with increases of serum aspartate transaminase (AST). HLA-DR1 and DR7 were significantly associated with increased serum AST concentrations.

Aged↗
PubMed1990

Immunogenetic heterogeneity of seronegative rheumatoid arthritis and the antiperinuclear factor.

HLA typing was carried out in 132 patients with rheumatoid arthritis (RA) with long term follow up, and special attention was focused on rheumatoid factor negative patients. The patients were divided into four groups: 55 patients with a seropositive RA and a positive antiperinuclear factor (group A); 39 seropositive patients but a negative antiperinuclear factor (group B); 14 patients consistently seronegative for 3-28 years (mean 11.8 years) but positive for antiperinuclear factor (group C); patients consistently negative for 3-28 years (mean 11.8) and also negative for antiperinuclear factor (group D). The prevalence of HLA-DR4 was 31/55 (56%), 29/39 (74%), 10/14 (71%), and 9/24 (37%) for groups A, B, C, and D respectively, and in all groups was significantly higher than in 277 healthy controls (55/277, 20%). No significant difference was found between seropositive (groups A and B) and seronegative (groups C and D) patients, but groups A, B, and C had higher prevalences than group D. It is concluded that in seronegative RA HLA-DR4 is preferentially associated with the antiperinuclear factor positive group.

Adult↗
PubMed1994

An immunogenetic study of familial scleroderma.

OBJECTIVE: To study the role of the HLA system in the genetic susceptibility to familial systemic sclerosis (SSc). METHODS: HLA class I antigens were determined by classic serological methods and HLA-DRB, -DQA and -DQB genes were analysed by genetic typing in 36 individuals belonging to two families with several individuals affected by SSc. RESULTS: The results did not show any association of the inheritance to SSc with any particular HLA allele in these families but revealed a striking frequency of ANA autoantibodies in healthy spouses of the members of these families. CONCLUSION: The otherwise infrequent familial incidence of SSc does not appear to be primarily linked to the HLA system in this study but it is suggested that other unknown exogenous environmental factors could be implicated in the development of the disease in families.

Adolescent↗
PubMed1996

Is immunogenetic susceptibility to neuropsychiatric systemic lupus erythematosus (SLE) different from non-neuropsychiatric SLE?

OBJECTIVES: To analyse frequency of HLA class II antigens (DR and DQ) and lymphocytotoxic autoantibodies in patients with systemic lupus erythematosus (SLE) and subsets with or without neuropsychiatric involvement. METHODS: Ninety three patients with SLE (42 with neuropsychiatric features) were typed for HLA class II antigens and investigated for the presence of lymphocytotoxic autoantibodies by a complement dependent microlymphocytotoxicity assay. A total of 191 controls of similar ethnic background were also typed for HLA antigens. RESULTS: HLA-DR3 antigen was increased in the total group of patients with SLE (p = 0.003) and in the neuropsychiatric group (p = 0.002). HLA-DR4 antigen frequency was increased in non-neuropsychiatric patients (p = 0.001) and decreased in patients with neuropsychiatric SLE (p = 0.0005). Comparisons of HLA frequencies between subgroups of patients showed decreased HLA-DR4 (p < 0.0001) and increased HLA-DR9 and HLA-DQ2 antigens (p = 0.0008 and 0.005 respectively) in the neuropsychiatric group. The frequency of lymphocytotoxic autoantibodies was increased in neuropsychiatric patients with SLE having HLA-DR9 specificity (p = 0.04). CONCLUSION: HLA-DR4 may have a protective specificity for the development of neuropsychiatric features of SLE and HLA-DR9, in addition to HLA-DR3, and the presence of lymphocytotoxic auto-antibodies may predispose to neuropsychiatric abnormalities.

Adolescent↗
PubMed2001

Clinical and immunogenetic characteristics of European multicase rheumatoid arthritis families.

OBJECTIVE: To describe the characteristics of a new set of European families with affected sib pairs (ASP) collected by the European Consortium on Rheumatoid Arthritis Families (ECRAF) to replicate the results of our first genome scan. Potential gradients for disease severity in Europe and concordance within families were studied. PATIENTS AND METHODS: From 1996 to 1998 European white families with at least two affected siblings were enrolled in the study. Demographic (sex, age at onset), clinical data (rheumatoid factor (RF), disease duration, erosive disease, extra-articular features (EF)), and HLA-DRB1 oligotyping were analysed. RESULTS: 565 patients with rheumatoid arthritis (RA), belonging to 271 families including 319 affected sib pairs (ASP) were collected. Belgium, France, Italy, the Netherlands, Portugal, and Spain contributed 20, 96, 52, 24, 9, and 70 families, respectively. Sex (78% women), age at onset (mean 44 years), and RF positivity (79%) were similar among the countries. Differences were found in disease duration (11-18 years) and in the prevalence of erosive disease (70-93%), nodules (15-44%), subjective Sjögren's syndrome (5-38%), and EF (3-16%) (p<0.05 in all cases). A total of 22% RA sibs were shared epitope (SE) negative, whereas 47% and 30% carried one and two SE alleles respectively. Carriage of SE differed widely among countries (p<0.0001): no SE alleles (6-36%), one allele (43-60%), and two alleles (20-39%). SE encoding alleles were mainly DRB1*04 in the Netherlands and Belgium, whereas SE carriage was less common and evenly distributed between DRB1*01, *04, and *10 in Mediterranean countries. No concordance within families was found either in age/calendar year of onset (intraclass correlation coefficient <0.50) or in clinical and radiological features (kappa<0.22). CONCLUSIONS: The differences in RA characteristics between European countries and within families underline the heterogeneity of the disease. No clear cut gradient of disease severity was seen in Europe.

Adult↗
PubMed1986

Immunogenetic studies in retinoblastoma.

In three unrelated families with transmitted retinoblastoma 43 members were tested for HLA-A, B, C, and DR antigens. On 18 patients, 16 unaffected relatives, and 16 controls, mixed lymphocyte cultures were carried out and the response to mitogens, phytohaemagglutinin, concanavalin A, and pokeweed mitogen examined. There were no associations of retinoblastoma with any HLA antigen. A reduction in T cell function is suggested by the results of the mitogen tests.

Eye Neoplasms↗
PubMed2001

Immunogenetics and clinical phenotype of sympathetic ophthalmia in British and Irish patients.

BACKGROUND/AIMS: Sympathetic ophthalmia (SO) is a classic example of autoimmune disease where human leucocyte antigen (HLA) genomic associations could provide further understanding of mechanisms of disease. This study sought to assess HLA genetic polymorphism in British and Irish patients with SO, and to assess whether HLA gene variants are associated with clinical phenotype or disease severity. METHODS: High resolution DNA based HLA typing using polymerase chain reaction sequence specific primers was performed in 27 patients with SO and 51 matched healthy controls. Clinical phenotype and markers of disease severity were determined prospectively in 17 newly diagnosed patients and from medical record review and repeat clinical examination in 10 previously diagnosed patients. RESULTS: HLA-Cw*03 (p=0.008), DRB1*04 (p=0.017), and DQA1*03 (p=0.014) were significantly associated with SO. For class II alleles at higher resolution, only HLA-DRB1*0404 (relative risk (RR) = 5.6, p = 0.045) was significantly associated with SO. The highest relative risk for any of the associated haplotypes was with HLA-DRB1*0404-DQA1*0301 (RR=10.9, p=0.019). Patients with the DRB1*04-DQA1*03 associated haplotype were significantly more likely to develop SO earlier, with fewer inciting ocular trauma events, and to require more systemic steroid therapy to control inflammatory activity. CONCLUSIONS: Sympathetic ophthalmia is associated with HLA-DRB1*04 and DQA1*03 genotypes in white patients, similar to Japanese patients. Differences in DRB1*04 gene variant associations (-0404 in Britain and Ireland and -0405 in Japan) may have implications for HLA peptide binding in disease initiation. The DRB1*04-DQA1*03 haplotype is a marker of increased SO susceptibility and severity, as in Vogt-Koyanagi-Harada disease, which also has similar clinicopathological and HLA associations.

Alleles↗
PubMed1986

Phenotypes of the heavy chains of immunoglobulins in patients with diabetic microangiopathy: evidence for an immunogenetic predisposition.

The B3 allotype of the fourth component of complement (C4B3) is associated with microangiopathy. As C4 is important in the humoral immune response phenotypic variation of other inherited components of the response such as the immunoglobulins could also be associated with microangiopathy. Phenotypes of the heavy chains of immunoglobulins (Gm) were compared in 48 insulin dependent diabetics with and 74 without microangiopathic complications. The Gm(zafnbg) phenotype was found significantly more often in insulin dependent diabetics with complications than in those without (16 (33%) out of 48 v 7 (9%) out of 74, respectively, p less than 0.01). Insulin dependent diabetics with both C4B3 and Gm(zafnbg) had an increased risk of complications compared with insulin dependent diabetics with neither or only one factor. Statistical analysis suggested that these two associations were additive, indicating that they increased risk by independent mechanisms. These findings suggest that susceptibility to diabetic microangiopathy is influenced by genes at or in linkage disequilibrium with both the major histocompatibility complex and the Gm loci.

Adult↗
PubMed1988

Graves' disease: immunological and immunogenetic indicators of relapse.

The use of measurements of antibody to the thyroid stimulating hormone receptor and HLA-DR3 phenotype for predicting relapse of hyperthyroidism in patients with Graves' disease receiving medical treatment is controversial. Fifty eight new patients with Graves' disease were followed up prospectively for up to 96 months after treatment with antithyroid drugs for 12 months. The presence of antibody to the thyroid stimulating hormone receptor before the start of treatment, measured as immunoglobulins inhibiting binding of thyroid stimulating hormone, was not associated with relapse. Patients who remained positive for antibodies after treatment tended to relapse within six months, but no relation with long term relapse was found. HLA-Cw7 but not HLA-DR3 was significantly associated with relapse. The presence of HLA-DR4 was significantly associated with remission and with absence of antibodies to thyroid stimulating hormone receptor. HLA-DR4 may therefore protect against relapse of thyrotoxicosis by immunomodulation triggered by antithyroid drugs, which results in the synthesis of antibodies to the thyroid stimulating hormone receptor being inhibited.

Adolescent↗
PubMed1983

HLA-DR3 and DR7 in coeliac disease: immunogenetic and clinical aspects.

The association of HLA-A,B,C, DR polymorphisms and of Bf and GLO with coeliac disease was analysed in 100 Italian children. Primary involvement of HLA-DR3 and DR7 is apparent, while specificities of nearby loci are probably associated secondarily, because of linkage disequilibrium. Direct assessment of D/DR genotype through family studies and mixed lymphocyte cultures led to the recognition of two high risk genotypes DR3/3 and DR3/7, and of two lower risk genotypes DR3/X and DR7/X. The different weight of the HLA-dependent genetic factors is to some extent correlated with the clinical and immunological parameters, suggesting that the low-risk genotypes induce a milder expression of coeliac disease. Furthermore, other genetic factors, such as sex, appear to contribute to the penetrance of the disease, especially in the case of DR3/X and DR7/X.

Adolescent↗
PubMed1970

Immunoglobulins in Jamaicans and Nigerians with immunogenetic typing of myeloma and lymphoma in Jamaicans.

Serum IgG concentration was lower in Jamaicans than in Nigerians. The maternalfoetal IgG ratio was also lower in Jamaican sera than in Nigerian sera. It is suggested that endemic malaria in Nigeria may be responsible for these differences. The higher IgM concentration in the Nigerian cord sera may be further evidence of this. Eighteen new cases of myeloma were detected in Jamaicans between August 1966 and May 1967. Based on Gm typing, only two of these showed evidence of mixed white ancestry. All the others had the typical Gm groups of Negroes. Similarly, only two patients out of a total of 17 with malignant lymphoma showed evidence of mixed white ancestry. Twelve of the patients with myeloma showed serum proteins of the IgG type, five were IgA, and one had only light chains in the serum. The majority of the patients had myeloma protein of the kappa type. The Gm typing suggested that six patients had myeloma protein of the gamma1 heavy chain subclass, and one patient had a gamma3 subclass heavy chain, the remainder belonging most likely to the gamma2 heavy chain subclass since gamma2 occurs about four times as frequently as gamma4.

Black or African American↗