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At least 1,369 records · Page 76Linked to original sources
PubMed1995

Immunogenetic analysis of 5 families with multicase occurrence of scleroderma and/or related variants.

OBJECTIVE: To investigate the relative contribution of the major histocompatibility (MHC) gene complex in the etiopathogenesis of familial scleroderma and/or its variants, in 5 Australian families, each with 2 affected members. METHODS: Affected individuals and consenting first degree relatives were examined and had blood collected for histocompatibility leukocyte (HLA) class I, class II antigen, and complement C4 typing. An antinuclear (ANA) profile screen on each family member was performed. RESULTS: Family 1, had 2 affected siblings (scleroderma, CREST), each anticentromere positive (> 1/640 titer), with identical HLA haplotypes. A brother, who was HLA identical to his affected sisters was clinically normal and ANA negative. In Family 2, there were no HLA haplotype similarities between the 2 sisters affected with diffuse scleroderma. Both were ANA positive (> 1/640). A 3rd sister was HLA identical to the proband but was clinically normal and ANA negative. In Family 3, affected siblings (CREST, morphea) had identical HLA haplotypes. In Family 4, both mother (CREST) and one of her 2 daughters (scleroderma) had anticentromere antibodies (1/2560). The unaffected daughter, not sharing either of her sister's haplotypes, was normal and ANA negative. In Family 5, 2 sisters (CREST, CREST) were HLA identical. CONCLUSION: A female predominance in familial scleroderma was observed. There was no common HLA haplotype between different families affected with scleroderma or its disease variants. Within families (except in one case, where the possibility of crossover exists or a question of paternity) affected siblings shared both HLA haplotypes. The development of disease was not totally accounted for by HLA genes, since family members with the same HLA haplotypes as the proband, were not affected. It appears that genes within the MHC complex are required but are not sufficient for the development of systemic sclerosis.

Adolescent↗
PubMed1995

[The immunogenetic status of patients with infectious endocarditis].

On the basis of a deep clinico-immunological examination of 23 patients with septic endocarditis it was established that HLA B35 antigen and haplotype A2-B35 are the most probable markers of the genetic predisposition to the development of infective endocarditis. Immune deficiency is accompanied by a decreased content of T-helpers, decreased activity of natural killers and phagocytic activity of granulocytes. A combination of a genetically determined defect of the immune response with a modification of histocompatibility antigens by infective agents, drugs (narcotics, antigens etc.) and other factors are thought to be of pathogenetic significance in the development of infective endocarditis.

Adolescent↗
PubMed1994

[NK cells and their characteristics and immunogenetic aspects].

This review summarizes knowledge of history and development of the "new" biological phenomenon. NK cells play a pivotal role in immune surveillance against tumors and virus-infected cells. They are also involved in natural resistance to bone marrow transplantations and in the regulation of the growth and activity of immunocompetent and hematopoietic cells. Unlike cytotoxic T lymphocytes NK cell activity is not dependent on thymus maturation and an expression of class I MHC antigens. They lack immunological memory and develop directly from precursor cells of the bone marrow. The lytic activity of NK cells is associated with the population of large granular lymphocytes (LGL). In human peripheral blood there is about 5% of LGL. A great deal of the study is given to still actual about the possible role of class I MHC antigen expression in regulation of NK-cell cytotoxicity. (Fig. 1, Tab. 2, Ref. 118).

Animals↗
PubMed1994

Treatment of Graves' disease with the block-replace regimen of antithyroid drugs: the effect of treatment duration and immunogenetic susceptibility on relapse.

Antithyroid drugs are commonly used as first-line treatment for Graves' disease, but the optimum regimen for inducing remission remains unclear. We gave the block-replace regimen of carbimazole plus thyroxine to 100 patients for 6 or 12 months, to determine whether prolonged treatment is associated with fewer relapses. The remission rate one year after cessation of treatment was 59% with the 6 month course and 65% with 12 months; this was not significantly different. We also analysed HLA markers identified by restriction fragment length polymorphisms and could not confirm the recently reported associations of outcome with HLA-DR4 or with an HLA-DQA2 allele. These results show that six months treatment with a block-replace regimen of antithyroid drugs is probably sufficient, in the UK, to achieve maximum remission of Graves' disease and that there are no HLA markers which clearly predict outcome.

Adult↗
PubMed1993

[Immunogenetic markers in the course of vibration disease].

A total of 276 Russian deep mine workers engaged into perforant boring were examined. HLA phenotype was determined according to the antigens of class 1 and 2. The antigen HLA-DR 5 turned out to associate with the high risk of severe vibration disease development complicated by degeneration and dystrophy of locomotor apparatus of hands. The antigens HLA-B 35, B 40, DR 2 were proved to have protective function and to be markers of higher resistance to the industrial vibration.

Adult↗
PubMed1993

[The HLA-B5 immunogenetic marker in Behçet's disease].

Twenty-three patients with Behçet's disease (BD) meeting the criteria of the international group for classification and diagnosis of BD (17 men and 6 women) were typed for HLA antigens class 1. The patients group was multinational, of them 19 were Caucasoids and 4 Mongoloids. It was shown that HLA B5 in Caucasoids occurred more frequently vs normal controls (73.7% and 15.5%, respectively). Under the correction of the antigens number up to 21, the differences continued to be statistically high. Characteristic for B5 antigen was a high relative risk and close association with the disease. In antigen group B5 + B35 the relative risk and association power grew still higher. The B5 positive group statistically more frequently had superficial thrombophlebitis and less frequently gastrointestinal involvement. It is concluded that class 1 HLA antigens, B5 in particular, are closely associated with BD in CIS countries.

Adult↗
PubMed1994

Evaluation of serine alpha 1-antitrypsin and polymorphonuclear leukocyte elastase contents and their immunogenetic correlation in psoriasis.

The purpose of our study was to quantify the serum content of alpha 1-antitrypsin (alpha 1-AT) and polymorphonuclear leukocyte elastase (PMN-E) in of 21 patients affected by active and stationary psoriasis, and 12 normal controls. HLA typing was also performed to identify a correlation among HLA antigens, age at onset of psoriasis and biochemical results. alpha 1-AT levels were within the normal range in all patients, even in those with active, extensive, inherited and juvenile psoriasis, and in the controls. These data allow us to exclude, in our patients, the presence of rare or defective phenotypes, frequently associated with reduced serine levels of alpha 1-AT. The PMN-E serine content was greatly increased in 3 patients, increased in 2, and slightly modified in 6 cases. All patients with the highest PMN-E levels reported a positive family history and absence of pulmonary, hepatic and atopic diseases. An increased psoriatic inheritance has been observed in the CW6-positive subjects (7/20), comparing B13 and DR6 antigen frequency. No correlation among HLA antigens, age at onset, clinical phase, or biochemical results could be established.

Adolescent↗
PubMed1993

[Immunogenetic factors in pulmonary tuberculosis surgery].

Distribution of HLA antigens, haptoglobin phenotypes (Hp), ABO blood groups and rhesus factor was investigated in 60 patients with fibrocavernous tuberculosis and 50 patients with tuberculomas. All the patients were Russian and had a history of surgery for tuberculosis. Carriers of antigens B27, DR2 of HLA system, HP 2-2 and blood group 0 (I) were encountered more often in the group of tuberculosis patients. Antigens A1, B12, DR3 and A2 occurred among tuberculoma patients more frequently and less frequently, respectively. Among those who developed postoperative complications carriers of blood group A (II) were found significantly less frequently. Antigens HLA and Hp types were unrelated to the incidence of pleuropulmonary and infectious postoperative complications. Tuberculosis reactivation in the postoperative period and postoperative recurrences occurred more often in carriers of HLA antigen DR2.

ABO Blood-Group System↗
PubMed1994

[Immunogenetics of the Sjogren's syndrome in southern Spain].

To establish the relation between HLA antigens, Primary Sjögren Syndrome (PSS) and autoantibodies production, in our geographical area, we undertook a case-control study with a consecutive sample of 30 patients with PSS (Fox's criteria) attending in a reference hospital. Two hundred and sixty-four local controls with no apparent pathology were included for comparison. In patients we evaluated clinical and analytical aspects about multisystem autoimmune disease. Anti-SSA/Ro and -SSB/La autoantibodies were determined by double immunodiffusion. HLA typing was serologically determined. In logistic regression multivariate analysis, there were significant association between PSS and specificities HLA-Cw7 (73% in cases, versus 35% in controls; RR = 8.0; 95% CI: 23.2-2.7), HLA-DR3 (63% vs 20%; RR = 3.4; 95% CI: 9.5-1.4) and HL-DR11 (43% vs 13%; RR = 4.1; 95% CI: 12.0-1.4). In patients, the anti-SSA/Ro autoantibodies production were associated with HLA-DR3 antigen (83% vs 25%; RR = 6./; 95% CI: 1.3-34.2). All HLA-DQ2/DQ6 heterozygotes patients (8 cases) had anti-SSA/Ro autoantibodies, versus only one half of the remainder (p = 0.029; RR = 6.3). In anti-SSA/Ro negative patients there weren't association with HLA-DR3 antigen (33% vs 20%). HLA-DR3 were associated with the presence of anti-SSB/La autoantibodies, but there wasn't signification (p = 0.081). We conclude that our patients with PSS present association with HLA-DR11 specificity, that it's a risk factor for the disease development. HLA-DR3 would determined the anti-SSA/Ro autoantibodies, and maybe also anti-SSB/La autoantibodies, production. Furthermore, HLA-DQ2/DQ6 heterozygosity would determined immune response to SSA/Ro autoantigen.

Autoantigens↗
PubMed1994

Characterization of the immunogenetic basis of ultraviolet-B light effects on contact hypersensitivity induction.

Ultraviolet-B (UVB) light has proven to be deleterious to the skin immune system in mice, and one major consequence is impairment of the induction of contact hypersensitivity (CH) to haptens applied to UVB-exposed skin. It has been shown recently that the damaging effects of UVB on CH are mediated primarily by tumour necrosis factor-alpha (TNF-alpha). Moreover, not all strains of mice are equally susceptible to the deleterious effects of UVB. Mice that develop CH when hapten is applied to UVB-exposed skin are termed UVB-resistant (UVB-R), whereas mice that fail to acquire CH under these circumstances are termed UVB-susceptible (UVB-S). In the present experiments, we have characterized the UVB-susceptibility of numerous, genetically disparate inbred strains of mice by applying dinitrofluorobenzene (DNFB) epicutaneously to normal and to UVB-exposed body wall skin. The results indicate that the intensities of CH responses of these different strains were distributed in a bimodal fashion, with means at 92% and 28.5% of positive control responses. Among the strains with CH values distributed around the higher mean (i.e. UVB-R mice), the intensity of CH responses after UVB irradiation was uniformly greater than 75% of the intensity found among their positive controls. By contrast, among the strains with CH values distributed around the lower mean (i.e. UVB-S mice), the intensity of CH responses after UVB exposure was uniformly less than 60% of the intensity displayed by their positive controls. The phenotypic traits of UVB-S and UVB-R appear, therefore, to be genetically determined. To that end, we provide in this report additional evidence that UVB-S is a polygenically determined trait that is dictated by polymorphisms at a locus within H-2, and at the Lps locus. Resistance to UVB radiation is a recessive trait, and requires homozygosity of resistance alleles at one or both of the two participating loci, whereas UVB-S acts as a dominant trait. Among H-2 congenic strains of mice that are lipopolysaccharide (LPS)-sensitive (Lpsn), UVB radiation impaired the induction of CH to DNFB in all mice except those of the H-2d and H-2a haplotypes. Thus, UVB-susceptibility is dictated by alleles at two, independent genetic loci that can influence transcriptional and translational activity of the Tnf-alpha gene. The potential biological and medical meaning of regulatory polymorphisms governing TNF-alpha production in the skin may be revealed by the recent demonstration that UVB-susceptibility and UVB-resistance are phenotypic traits in humans.(ABSTRACT TRUNCATED AT 400 WORDS)

Alleles↗
PubMed1993

Species diversity in the immunogenetic relationship between mother and fetus: is trophoblast insusceptibility to immunological destruction the only essential common feature for the maintenance of allogeneic pregnancy?

Maternal-fetal immune interactions in pregnancy have been examined in a number of different species using a wide range of experimental procedures, many of which have been incapable of providing information on the specificity of the immunological parameters measured. As a result, data have often been unconvincing, unsubstantiated or conflicting. It is clear that considerable species diversity exists in the precise nature of the maternal immune responses elicited against the genetically dissimilar fetus. These may, however, be an irrelevant consequence of fetomaternal genetic incompatibilities. A feature common to all eutherian mammalian species, that could alone be responsible for the maintenance of allogeneic pregnancy, is the apparent insusceptibility of the fetal trophoblast to immune destruction. This is effected in some species by an absence of appropriate target molecules, particularly classical class I MHC antigens, on the trophoblast cell surface, and in others possessing these (and possibly other) target structures, by the local trophoblastic secretion of soluble factors, not yet fully characterised, that appear to be capable of inhibiting binding and interaction with cells of the maternal immune system. As there is no convincing evidence for transplacental transfer of significant numbers of maternal lymphocytes, the survival of the allogeneic fetus is likely to be ensured by the impenetrability of the trophoblastic tissue barrier and its resistance to maternal immunologically mediated attack. Should this be firmly established, it would not be necessary to invoke any of the immunoregulatory mechanisms that have been claimed to be essential for successful implantation and development of the mammalian embryo. This would in turn negate the concept of an alloimmune aetiology for pregnancy failure and hence also the rationale for those therapeutic procedures intended to restore the assumed inadequate maternal alloimmune protective responses.

Animals↗
PubMed1993

[Distribution of immunogenetic markers of erythrocyte systems in ischemic heart disease].

Distribution of 24 phenotypes of 6 red cell systems (ABO, Rh-Hr, MNSs, Duffy, Kell-Chellano, Kidd) has been studied for the first time in 275 coronary patients of Armenian nationality. Antigens ABO and MN were determined by hemagglutination, antigen Rho(D) by conglutination, antigens C, c, E, e, Fya, Fyb, Jka, Jkb, K and k by indirect Coombs reaction. Out of the 6 systems, only heterozygous phenotype Cc and homozygous phenotype Jk (a-b+) were positively associated with coronary heart disease. The carriers of the former had a risk of CHD 2.2-times that for patients carrying CC and Jk (a+b+), while the carriers of the latter had this risk increased 5-fold. Simultaneous identification of Kidd system phenotypes and Rh-Hr (Jkb (a-b+) and CC in the same patient may be considered as a genetic CHD marker in Armenian population. The above fact needs special attention in early preclinical diagnosis and prevention of CHD.

Erythrocytes↗
PubMedDate not supplied

[Immunogenetic factors in the onset of experimental tumors].

The influence of immunological and genetic factors on the appearance of experimental tumors has been studied in mice by means of bidirectional selection. We found that the incidence of lymphomas, solid tumors and chronic nephritis is greater in mice selected for low antibody response than in mice selected for high antibody response. These findings suggest that the genes that control the antibody response also regulate life-span and resistance to neoplastic and inflammatory diseases. Similarly, we are carrying out bidirectional selective breeding to obtain two lines of mice, one sensitive and one resistant to the induction of cutaneous papillomas by chemical carcinogens. The two lines differ notably in terms of both percent of incidence and tumor multiplicity. The results of this study demonstrate clearly that resistance and susceptibility to carcinogenesis are subject to polygenic control.

Animals↗