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PubMedDate not supplied

Efficient storage and analysis of immunogenetic phenotypes: the phenotype-element technique.

An efficient means of representing genetic phenotype data is presented. This method employs 'phenotype elements', which are trinary indicators of observed traits. Each phenotype element describes phenotypic information such as an individual's reaction to an antiserum, and assumes a value of positive, negative or unknown. A genotype-phenotype table allows calculation of possible genotypes which correspond to a given phenotype. Applications of the technique are discussed.

Genotype↗
PubMed1991

Association of autoimmunity and cicatricial pemphigoid: is there an immunogenetic basis?

A group of 34 patients with cicatricial pemphigoid was investigated for the presence of autoimmune disorders. Thirty-two percent of patients had autoimmune disease compared with 7% in the control population, a highly significant difference (p less than 0.002). Circulating autoantibodies were also significantly more common in patients (p less than 0.05). Twenty-four patients with cicatricial pemphigoid were typed for HLA. A statistically significant increase in the frequency of DR4 and DQw3 antigens was observed in these patients. These findings suggest a possible genetic basis for the autoimmune association and predisposition for development of cicatricial pemphigoid.

Adolescent↗
PubMed1995

[Thyroid disease and multiple autoimmune syndromes. Clinical and immunogenetic aspects apropos of 11 cases].

The authors report eleven cases of multiple auto-immune syndrome, concerning a total of 15 different auto-immune diseases. This study suggests that auto-immune thyroid disorders (Graves' disease or hypothyroidism resulting from Hashimoto's thyroiditis) are a common feature of multiple auto-immune syndromes, while antithyroid antibodies are constant among our patients. Sjögren's syndrome is also very prevalent, and seems to be non-randomly associated with auto-immune thyroid disorders, a fact which suggests common aetiological factors. Among other auto-immune disorders, the antiphospholipid syndrome has been diagnosed twice. A genetic predisposition to multiple auto-immune syndrome is obvious, as shown by a familial history of auto-immune disorders (found in more than half of the cases), and a predominant HLA phenotype, B8 and/or DR3. The authors plead for a systematic enquiry for multiple auto-immune syndrome in patients with auto-immune thyroid disorders and a family history of auto-immune disorders.

Adult↗
PubMedDate not supplied

Towards a unified theory for immunogenetic systems. I. Probing the serologic field--a meta-serologic approach.

A serologic field (SEF) is produced by the in vitro studies of antibody-antigen interactions and usually includes serologic information processing (SIF). SIF can be regarded as the process whereby essentially "meaningless" raw data or experimental observables emanating from an input reality are structuralized and hence falsified into a "meaningful" pattern, Gestalt or output image. According to this "black box model", different "fact categories" (FC) can be identified in SEF. Traditional serology generally confounds its FC whereby fact category mistakes (FCM) are produced. Some FCM are structurally similar to the description of "mice" as four-letter animals or as a four-legged word--i.e. facts about "thing-properties" (animals, legs) are confounded with facts about "language-properties" (letters, words). In SEF, antibody and antigen molecules (thing-properties) are similarly endowed with "empty symbols" (language-properties). Due to such FCM, radically new meanings are assigned to experimental observables if the serologic language and/or theory is changed. The present meta-serologic approach consists of the design of a meta-serologic symbol language (SL-2) which includes the contemporary (simple-complex) conceptual framework (language and theory) as a limiting case. Consequently, some truly radical and revolutionary Gestalt switches will be generated when a specified SEF is mapped onto SL-2.

Antigen-Antibody Reactions↗
PubMed1991

Immunogenetic heterogeneity in type I (insulin-dependent) diabetes among the Tunisian population. HLA-DR antigens and organ-specific autoantibodies (family study).

The frequency of HLA-DR antigens, as well as the prevalence of islet cell insulin autoantibodies and other autoimmunity disorders, were investigated in Tunisian patients with insulin-dependent diabetes mellitus (IDDM) and were compared with family members (sibs) and healthy control subjects. Cytoplasmic islet cell autoantibodies (ICA) were found in 79 of 175 (45.1%) patients with IDDM, in 23 of 126 (18.25%) unaffected first degree relatives of type I diabetes patients and in only two of 146 (1.3%) control subjects. In 79 ICA positive patients with IDDM, 46.8% presented other evidence of autoimmunity by testing for specific autoantibodies. Insulin autoantibodies were found in 86.9% of healthy ICA-positive sibs. A good correlation between HLA-DR3/DR4 heterozygous phenotypes and the presence of ICA in patients with IDDM and their unaffected sibs was observed in the Tunisian population. In fact, this heterozygous phenotype is found in 63.3% of ICA-positive diabetic patients and in 44.4% of ICA-positive unaffected sibs, whereas, HLA-DR3/DR4 antigens were noted in only 22.9% of ICA-negative diabetic patients and in no ICA-negative unaffected sibs. In these studies, we also summarized the distribution of HLA-DR antigens in patients with IDDM who presented autoimmune disorders other than ICA.

Adolescent↗
PubMed2005

Immunogenetics of viral infections.

The HLA class I and II genes encode molecules that lie at the heart of the acquired immune response against infectious diseases. Associations between these polymorphic loci and genetically complex infectious diseases have been historically elusive, in contrast to the more obvious HLA associations with autoimmune diseases. High resolution molecular typing of large, clinically well-defined cohorts has begun to uncover evidence for the influence of HLA diversity on diseases of viral etiology, such as those caused by HIV-1, hepatitis B virus, hepatitis C virus and human papilloma virus. Combinations of HLA and KIR also appear to affect outcome to viral infection, supporting a role for HLA class I diversity in the innate immune response in addition to the acquired immune response.

Animals↗
PubMed2005

Immunogenetic association in patients with antineutrophil cytoplasmic antibodies (ANCA) from Mumbai, Maharashtra, India.

Considerable genetic evidence exit for ANCA-associated vasculitis and pathogenesis. HLA A and B alleles identified serologically from 84 ANCA-positive patients were compared with 101 controls. Further subtyping were done in the 27 "pauci-immune" vasculitis patients using the polymerase chain reaction based PCR-SSOP technique and compared with controls (67). The results revealed that HLA A1 (OR=4.00; p value 2.72E-05), B17 (OR=3.38; p value 0.0008) and HLA B40 (OR=2.74; p value 0.001) were significantly increased among ANCA-positive patients when compared with the controls. Further, the molecular subtypes A*0101 (OR=5.04; p value 0.0005), B*5801 (OR=4.47; p value 0.0002) and haplotype A*0101-B*5801 (OR=4.47; p value 0.0001) were significantly increased among the autoimmune patients. The study revealed that HLA A1, B17 and B40 alleles are associated in production of antineutrophil autoantibodies and A*0101-B*5801 haplotype is significantly associated with autoimmune diseases and they may be invariably involved in disease pathogenesis in India.

Antibodies, Antineutrophil Cytoplasmic↗
PubMed2005

Immunogenetic factors in beryllium sensitization and chronic beryllium disease.

Exposure to beryllium in the workplace can cause beryllium sensitization and chronic beryllium disease. Sensitization to beryllium can be detected in the laboratory using the beryllium lymphocyte proliferation test. It was shown that anti-HLA antibodies could block the beryllium-specific response in the beryllium lymphocyte proliferation test, thereby implicating HLA genes in chronic beryllium disease. A supratypic genetic marker, HLA-DPB1*E69, was found to be strongly associated with immunologic sensitization to beryllium and chronic beryllium disease in beryllium workers. However, there are 40 HLA-DPB1 gene variants that have E69 but that also have other DNA sequence variations. The purpose of the study was to evaluate the evidence for potential differential susceptibility that may be associated with the physical characteristics of HLA protein molecules for which different HLA-DPB1*E69 variants code; that is, do some HLA-DPB1*E69 variants convey higher risk of beryllium sensitization and chronic beryllium disease than others. To do this, two approaches were pursued: first, detailed analysis of the findings from the published literature was performed, and second, computational chemistry was used to seek clues concerning the physical properties of the HLA protein molecules for which these alleles code. Among the 40 HLA-DPB1 gene variants that code for E69, molecular epidemiological studies have suggested a risk hierarchy, where some variants appear to convey low to moderate risk of chronic beryllium disease (e.g., HLA-DPB1*0201, approximately 3-fold increased risk), some convey an intermediate risk (e.g., HLA-DPB1*1901, approximately 5-fold) and others convey high risk (e.g., HLA-DPB1*1701, >10-fold). Molecular modeling has been used to further investigate a potential mechanistic basis for these observations. We found a strong correlation between the hierarchical order of risk of chronic beryllium disease associated with specific alleles and the predicted surface electrostatic potential and charge of the corresponding isotypes. Therefore, when alleles were grouped by the relative negative charge on the molecules for which they code, the data suggest that those alleles associated with the most negatively charged proteins carry the greatest risk of beryllium sensitization and disease.

Berylliosis↗
PubMedDate not supplied

Immunohistochemical and immunogenetic analyses of ocular adnexal lymphoid proliferation.

PURPOSE: To compare polymerase chain reaction (PCR) results with histological, immunohistochemical, and clinical findings to understand the nature of ocular adnexal lymphoid proliferation. METHODS: We examined 20 cases (21 specimens) of ocular adnexal lymphoid proliferation, using histological, immunohistochemical, and molecular genetic methods. The latter two types of experiments were performed to examine the light chain restriction of immunoglobulin using the peroxidase-antiperoxidase method, and the clonality of immunoglobulin heavy chains using the PCR method. RESULTS: Although in 8 cases it could not be determined morphologically whether the tumors were neoplastic or not, clonality was revealed in 1 case by immunohistochemistry and in 4 cases by PCR. Two cases showed disparate results between immunohistochemistry and PCR, probably due to somatic mutation of the framework region of the immunoglobulin heavy chain gene. CONCLUSION: Examination using these methods contributes to a better understanding of the nature of the ocular adnexal lymphoid proliferation. Furthermore, the immunoglobulin gene PCR method is very useful in practice for examination of specimens, as it can be used with formalin-fixed and paraffin-embedded specimens.

Adult↗
PubMedDate not supplied

Immunogenetics of episcleritis in leprosy.

Human leukocyte antigens (HLA) were analyzed among Japanese leprosy patients to identify any possible determinants in the development of episcleritis in leprosy patients. Seventy-nine Japanese leprosy patients (33 patients with history of episcleritis and 46 patients without episcleritis) and 114 healthy control subjects were investigated. Human leukocyte antigen-class I and class II specificities were determined serologically by the standard microcytotoxicity test. The HLA-DRB1, -DRB5, -DQA1, and -DQB1 genotypings were performed by using the polymerase chain reaction (PCR)-single strand conformation polymorphism and PCR-restriction fragment length polymorphism analyses. The frequency of HLA-Cw3 was significantly increased among the patients with episcleritis (66.7%) compared to patients without episcleritis (43.5%; odds ratio = 2.6, P < 0.05). The frequency of HLA-DR4 was significantly decreased among the patients with episcleritis (15.2%) compared to patients without episcleritis (39.1%; odds ratio = 0.28, P < 0.05) and the controls (46.5%; odds ratio = 0.21, P < 0.001). At the genomic level, frequencies of the HLA-DRB1*0405, -DQB1*0401, and -DQB1*0302 alleles were significantly decreased among the patients with episcleritis (0%, 0%, and 6.1%, respectively) compared to patients without episcleritis (15.2%, 13.0%, and 26.1%, respectively; odds ratio = 0.07, 0.09, and 0.18, P < 0.05). HLA-DRB1*0405 and -DQB1*0401 were also significantly decreased among the patients with episcleritis compared to the controls (29.8% and 29.8%; odds ratio = 0.04, P < 0.0001). Our results suggest that HLA-Cw3 antigen confers the susceptibility to the development of episcleritis among Japanese leprosy patients. Concurrently, the DRB1 (the -DBR1*0405), and/or DQB1 (the -DQB1*0401 and -DQB1*0302) alleles might provide protection against leprous episcleritis.

Alleles↗
PubMedDate not supplied

Immunogenetics of uveitis in leprosy.

PURPOSE: To identify any possible determinants in the development of uveitis in leprosy patients. METHODS: Human leukocyte antigen (HLA) class I and II antigen, and HLA class II genotypings were analyzed among Japanese leprosy patients. Ninety-three unrelated Japanese leprosy patients (46 patients with a history of uveitis and 47 patients without uveitis) and 114 healthy control subjects were investigated. RESULTS: The occurrence of HLA-DR2 was significantly higher in patients with uveitis (78.3%) than in those without uveitis (57.4%; odds ratio = 2.7, P<.05) and in the controls (33.3%; odds ratio = 7.2, P<.0000005, Pc<.00005). The occurrence of HLA-DR4 was significantly lower in patients with uveitis (15.2%) than in those without it (38.3%; odds ratio = 0.29, P<.05) and in the controls (46.5%; odds ratio = 0.21, P<.0005, Pc<.05). Furthermore, the frequencies of DR2-positive and DR4-negative genotypes were significantly higher in patients with uveitis (69.6%) than in those without it (38.3%; odds ratio = 3.7, P<.005) and in the controls (21.9%; odds ratio = 8.1, P<.00000005). At the genomic level, the occurrence of HLA-DQB1*0302 was significantly lower in the patients with uveitis (8.7%) than in those without it (25.5%; odds ratio = 0.28, P<.05). The distribution of HLA-DRB1 and DQA1 alleles was not significantly different between the patients with and those without uveitis. However, the frequencies of DRB1*1501-positive, as well as DRB1*0405- and DQB1*0302-negative genotypes were significantly higher in the patients with uveitis (47.8%) than in those without it (25.5%; odds ratio = 2.7, P<.05) and in the controls (8.8%; odds ratio = 9.5, P<.00000005). CONCLUSIONS: Our results suggest that HLA Class II genes confer susceptibility to or protection from leprous uveitis.

Adolescent↗