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At least 307 records · Page 17Linked to original sources
PubMed1990

Immunogenetics of early onset pauciarticular juvenile rheumatoid arthritis.

Certain major histocompatibility complex (MHC) class I and class II genes are uniquely associated with early onset pauciarticular juvenile rheumatoid arthritis (JRA). As in other autoimmune diseases, these associations are likely to reflect contributions of the MHC to a trimolecular complex formed by HLA, lymphocyte T cell receptor and the putative antigen. The HLA genes associated with JRA are currently the best understood component of this complex. Recent findings demonstrated that combinations of genes, even within class II, play an important role. Data generated by DNA sequencing techniques have clarified the splits of given genes involved in disease, e.g., the HLA-DRw8 allele, HLA-DRB1*0801 rather than HLA-DRB1*0802, which does not carry an increased risk for disease. Recent findings suggest that aberrant sequences in particular genes are unimportant. Substantial challenges remain; including establishing the particular HLA DNA nucleotides critical to antigen presentation. It is probable that new and specific therapeutic approaches will be developed which will utilize the immunogenetic data now being accumulated.

Adolescent↗
PubMed1990

[Blood immunogenetic markers in suppurative-infectious diseases].

The results are available of typing red blood cells (ABO, Rh, MN) and HLA antigens (locus A, B) as well as haptoglobulin in 118 cases of pyosepsis. The occurrence of some HLA-antigens and of haptoglobulin types was specified for an overall group of patients, staphylococcal and pseudomonas sepsis, vital infection patients. Distribution of the above immunogenetic markers in separate nosological variants of pyoseptic infection has been analyzed.

Blood Group Antigens↗
PubMed1990

[Immunogenetic factors influencing HBV carrier state, the seroconversion and the development of chronic liver disease].

In order to investigate the immunogenetic factors associated with hepatitis B virus (HBV) carrier state, the HBe seroconversion and the development of chronic liver disease, HLA typing were performed in 278 asymptomatic HBV carriers (ASC) and 110 patients with chronic B type hepatitis (CH). HLA typing was also performed in 178 vaccinees who had received hepatitis B vaccine. The significantly decreased frequencies of DR1 and DRw13 were found in ASC, CH and non-responders to HB vaccine. This suggests that DR1 and DRw13 may be associated with the elimination of HBV. The frequency of DR4.2 was increased in ASC, but decreased in CH. The seroconversion rate of DR4.2 positive CH as well as ASC was high. Therefore DR4.2 may have relevance to the seroconversion from HBeAg to anti-HBe.

Carrier State↗
PubMed1990

SLE: a rheumatological view. Analysis of the clinical features, serology and immunogenetics of 100 SLE patients during long-term follow-up.

Clinical features and immunogenetics were assessed in 100 SLE patients attending a rheumatology clinic for periods ranging from six months to 11 years (mean five years). Five-year survival was 88 per cent. Joint problems (94 per cent), rash (90 per cent) and haematological abnormalities (89 per cent) were the most common clinical features; neuropsychiatric disturbance (45 per cent) and renal disease (29 per cent) were seen less frequently. A range of serological abnormalities was found, including antinuclear antibodies (98 per cent) and antibodies to phospholipids (38 per cent). Anti-Sm antibodies (7 per cent) showed a marked ethnic bias. Tissue typing confirmed the importance of genetic factors by demonstrating significant increases in A1, B8 and DR3 in white Caucasians. The composite phenotype A1,B8,DR3 was present in 35 per cent of white Caucasian patients with SLE. The A1,B8 phenotype was associated with a relative risk of 8.0 and B8,DR3 with a relative risk of 8.32.

Adolescent↗
PubMed1985

Systemic lupus erythematosus: a review of clinico-laboratory features and immunogenetic markers in 150 patients with emphasis on demographic subsets.

Clinical and laboratory features as well as immunogenetic markers were analyzed in 150 patients with SLE to determine if demographic factors--age at diagnosis, sex and race--influenced the expression of disease. The overall series included 103 white females, 35 black females, 10 white males and 2 black males; the mean age at diagnosis was 32.5 years. Males had a significantly older mean age at diagnosis than females (40.4 versus 31.8 years) and a significantly higher frequency of peripheral neuropathy (50% versus 18.8%). No other differences in clinical or laboratory features or HLA-DR or DQ phenotype frequencies were noted. Blacks had a significant younger mean age at diagnosis than whites (26.9 versus 33.4 years) as well as significantly higher frequencies of nephritis, hypertension, acute lupus pneumonitis, discoid rash, hyperglobulinemia and hypocomplementemia. There were no differences in autoantibody frequencies between race-specific subgroups. HLA-DR2, DRw52 and DQ1 were significantly associated with SLE in whites compared to controls; no HLA-DR or DQ associations were found with SLE in blacks. In whites, HLA-DR2 was associated with the presence of anti-Ro(SS-A) antibody while HLA-DR3 was associated with the presence of both anti-Ro(SS-A) and anti-La(SS-B) antibody. In blacks, HLA-DR2 was associated with the presence of anti-nDNA antibody. In whites, patients with late-onset SLE (age at diagnosis greater than or equal to 50 years) had significantly lower frequencies of nephritis and mesenteric vasculitis but, on the other hand, a higher frequency of secondary Sjögren syndrome than patients with age at diagnosis less than or equal to 22 years. Similar findings were noted when blacks aged 35 and above were compared to those aged 17 and below at diagnosis. In whites, the frequency of both anti-Ro(SS-A) and La(SS-B) antibodies increased with increasing age as did that of HLA-DR3; HLA-DR2, however, was more frequent in those with younger age at diagnosis. These data suggest the existence of two serologic-genetic subsets of SLE with different age at diagnosis.

Adolescent↗
PubMed1989

[The role of immunogenetic research in studying hypertension].

The distribution of antigens of the main complex of histocompatibility was studied in 50 patients suffering of hypertensive disease complicated by cerebrovascular disfunction of the brain. A correlation was found between the development of hypertensive disease and several antigens. Results of the study confirm the role of the role of the genetic factor in the development of hypertensive disease and the significance of immunogenetic investigations.

Adult↗
PubMed1989

[Immunologic and immunogenetic heterogeneity of systemic and discoid lupus erythematosus].

The immune and endocrine systems and HLA genotype were subjected to a comparative study in patients with systemic and discoid lupus erythematosus (SLE, DLE). The patients suffering from these diseases were found to differ in a number of the parameters of the immune status including the content in blood serum and supernatant of the cultivated mononuclear cells of the soluble molecules HLA-A, HLA-B and HLA-DR. The degree of the SLE and DLE association with the genes and haplotypes of class I HLA complex was different as was the character of the association of HLA-A and HLA-B specificities with the activity of the immune system cells and with hydrocortisone content in plasma. The common immunogenetic syndrome characteristic of SLE and DLE patients has been identified.

Adolescent↗
PubMed1988

Immunogenetic heterogeneity of uveal melanoma.

Investigations have been performed to identify genetic markers in uveal melanoma (UM) patients. The immunogenetic heterogeneity of the histologically different forms of UM until now has been little analyzed. We subdivided our UM patients, all typed for class I and II HLA antigens and for Bf polymorphism, into two groups: 1) those with a high degree of malignancy (with nonspindle cells) and 2) those with a low degree of malignancy (with spindle cells). The deviated frequencies of class I HLA antigens (A32, B27) seem to be involved in the predisposition to spindle cell melanoma, while HLA class II (DR3, DR7) and class III (Bf F) strongly mark the worst form of UM. Different Gm allotype distributions between the two histological types of UM were also found.

Gene Frequency↗
PubMed1977

HLA and other immunogenetic approaches to the study of diseases in man.

We have attempted to focus on several areas that can be practically explored to elucidate the mechanisms accounting for the polymorphism of the human major histocompatibility complex and attendent disease predispositions. In addition to widespread serologic HLA typing of specific populations, diseases, and families, it is important to improve discriminating methods for expoloration of other areas of the HLA supergene, especially those involved in specific immune responsiveness. It may also be necessary to take into account possible modulating effects of the MHC on other recognized human genes. Application of these improved methods to the study of infertile couples, recognized genetic syndromes, and human malignancies may assist in unraveling the immunogenetic enigma of these diseases.

Allergy and Immunology↗
PubMed1988

Clinical, serologic and immunogenetic studies in patients with chronic cutaneous (discoid) lupus erythematosus who have verrucous and/or hypertrophic skin lesions.

Verrucous and/or hypertrophic lesions occasionally occur in patients with lupus erythematosus. It has been suggested that these patients have skin disease which is characterized by chronicity and resistance to therapy other than intralesional corticosteroids. We studied 8 patients with chronic cutaneous (discoid) lupus erythematosus and 1 patient with papulosquamous subacute cutaneous lupus erythematosus with verrucous and/or hypertrophic lesions. Serologic, immunogenetic, and clinical data were gathered to confirm the distinctiveness of this subset and to seek specific laboratory correlates.

Adrenal Cortex Hormones↗
PubMed1986

[Anencephalus immunogenetic factor].

The T/t complex in the mouse is considered to be a gene locus that brings about neural tube defects. This locus is found to exist near the H-2 complex, which is the MHC of the mouse. Accordingly, it is conceivable that there exists a T/t-like complex near the HLA complex in humans. Studies on the HLA-A, -B, -DR, -DRw52, -53 and DQ loci of parents with anencephalus and affected offspring were undertaken with the aim of revealing the relationship between anencephalus and the HLA complex. The following results were obtained: The gene frequency of HLA-DR5 in a mother with anencephalus was significantly higher than in controls. HLA-DR materno-paternal compatibility was significantly higher than in control couples. An increase in HLA-DR, -DRw52, -53 and DQ homozygosity were observed among the affected offspring. These results indicated that there may exist an anencephalus immunogenetic factor in the HLA-D region.

Adult↗
PubMed1987

HLA immunogenetic heterogeneity in black American patients with Graves' disease.

Seventy-three American black patients with Graves' disease were typed for HLA-A, HLA-B, and HLA-DR antigens. There was a slight increase in HLA-DRw6 antigen frequency compared with 238 normal American black controls, but this was not significant after correction for the number of antigens tested. A significant increase in HLA-DR4 and HLA-DRw6 frequency was found in a subgroup of patients with exophthalmos (22.9% and 29.2% compared with 7.6% and 10.1% of normal black controls). There was a significant increase in HLA-DRw6 in a subgroup of patients who were thyroid antibody-positive (26.0%). The increment in HLA-DRw6 was higher in 32 patients who had both exophthalmos and who were antibody positive (37.5%). A significant increase in HLA-DR5 was found in a subgroup of patients who did not have exophthalmos and who were antibody-negative (83.3%). Our findings support previous evidence for immunogenetic heterogeneity in patients with toxic Graves' disease. In American blacks HLA-DRw6 is in some way associated with the disease in contrast to the well-recognized HLA-DR3 association in whites.

Black or African American↗
PubMed1986

Extractable nuclear antigen (ENA) autoantibodies in SLE: an immunogenetic relationship with HLA, C4 and Bf alleles.

Sera from 36 subjects with systemic lupus erythematosus (SLE) were examined for extractable nuclear antigen (ENA) autoantibodies by immunoassay with the ribonucleoprotein (RNP) subset being determined by immunodiffusion. The prevalence of the genetic markers of HLA, the fourth complement component (C4) and properdin factor (Bf), which are all coded for within the major histocompatibility complex on chromosome 6 were analysed in relation to various parameters of these autoantibodies. The following associations were observed: The lowest ENA antibody titres of the RNP negative group were associated with HLA A9 (P less than 0.05), while the lowest RNA-ase sensitive ENA (RSE) subset antibody levels were associated with HLA Dr 1 (P less than 0.05). For the complement markers, C4 AQo was associated with the lowest affinity ENA antibodies (P less than 0.05), while the BF F allele and Fs phenotype had lower RSE antibody levels than did the S allele (P less than 0.05) and the SS phenotype (P less than 0.05) respectively. This study demonstrated diverse association between various MHC markers and ENA antibody parameters, indicating that there are distinctive immunogenetic influences over ENA autoantibodies in SLE.

Adolescent↗
PubMed1987

A comparison of clinical and immunogenetic features in familial and sporadic rheumatoid arthritis.

Clinical and immunogenetic factors were compared in 214 patients with sporadic rheumatoid arthritis (RA) and 117 patients from 52 multiplex families. Sex distribution, articular disease severity and seropositivity for rheumatoid and antinuclear factors were similar in familial and sporadic disease. There was a trend for Sjögren's and Felty's syndromes to be more frequent in familial RA but extraarticular disease features were otherwise similar in the 2 RA disease groups. Mean age of onset was 41.1 years in familial and 46.5 years in sporadic RA (p less than 0.0006); 67% of family probands, 74% of affected relatives and 57% of sporadic patients were HLA-DR4 positive (p less than 0.05 affected relatives vs sporadic). The similarity of clinical features found in familial and sporadic RA justifies the use of families with RA to study aspects of disease pathogenesis.

Adult↗
PubMedDate not supplied

Tiopronin-nephropathy: clinical, pathological, immunological and immunogenetic characteristics.

Nine patients who developed proteinuria while on Tiopronin (a D-Penicillamine-like drug) have been studied. Nephrotic syndrome was observed in six cases. Immunologic analysis revealed a high frequency of ANA positivity and RF seronegativity by the time nephropathy appeared. Six patients were biopsied. Immunofluorescence, electron and light microscopy studies showed: glomerulonephritis with segmental deposits in the mesangium and along the capillary walls in one patient, mesangioprolipherative glomerulonephritis in one case and stage 1 membranous glomerulonephritis in four cases. Immunogenetic typing disclosed a strong association with B35-Cw4 class I antigens.

Adult↗
PubMed1987

[Demonstration of individual predisposition to myocardial infarct based on immunogenetic status].

Statusometry, a method of automated quantitative assessment of the state of composite multiparametrical objects, is proposed for the detection of genetic predisposition to myocardial infarction as an instrument of integral quantitative assessment of systemic immunogenetic status on the basis of HLA phenotype. The prognostic error does not exceed 15%. Large-scale application of the new method appears a promising approach to individualization and better efficiency of preventive cardiologic treatment.

HLA Antigens↗
PubMedDate not supplied

[Familial Mediterranean fever. Immunogenetic and rheumatologic aspects of the disease in a Turkish sibship].

A family study was performed in 24 members of a Turkish sibship with familial Mediterranean fever (FMF) with 5 patients affected in 3 generations. The well-known autosomal-recessive inheritance of the disease was masked by a pseudodominant appearance, reflecting the striking frequency of congenial marriages. The immunogenetic investigation excluded a linkage between the expression of the disease and the HLA system. The arthritis of FMF was characterized typically by monarticular attacks in large joints of the lower limb. Frequently this manifestation led to diagnostic problems, particularly at the onset of the disease. No patient presented the clinical or radiological signs of sacroileitis. An observation of the disease process up to 3 years showed a benign prognosis of FMF-arthritis in 3 of 4 patients. Neither long-lasting functional impairment nor radiological signs of erosion had to be recognized. One patient suffered from a necrosis of the femoral head, possibly caused by the recurrent inflammation of the hip joint. Laboratory findings reflected the clinical picture of relapsing acute inflammation in an uncharacteristic manner. Their diagnostic significance exists mainly for the exclusion of other diseases.

Adult↗