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PubMed1994

Immunogenetics of chronic liver diseases.

The genetic background of autoimmune diseases becomes more and more evident. Immunogenetics comprises the analysis of genes and their products located at the region 6p21 on the short arm of chromosome 6, which is also known as the major histocompatibility complex (MHC). MHC class I and II genes are highly polymorphic. The complement genes C2, C4A, C4B, and BF, which are also polymorphic, became known as MHC class III genes. In autoimmune hepatitis type 1, there is a dual association for white persons with either HLA-A1-B8-DR3 or HLA-DR4. In patients from Japan, autoimmune hepatitis type 1 is predominantly associated with HLA-DR4. This dual association is confirmed at the DNA level. Whereas only limited data are available for autoimmune hepatitis type 2, the association of primary biliary cirrhosis with HLA-DR8 is based on several studies. Primary sclerosing cholangitis is associated with HLA-B8-DR3 and -DR52a. This association was confirmed at the DNA level because of a significant increase of the DRB3*0101 allele. For DRB3*0101-negative individuals, a second association with DRB5*0101 (= DR2) was described. Further analysis of the hypervariable region of the HLA class II molecule indicates that lysine at position 71 is crucial for autoimmune hepatitis type 1 in white persons, whereas position 13 is important for people from Japan. In contrast, leucine at position 35 is important for patients with primary biliary cirrhosis, whereas leucine at position 38 is an important risk factor for primary sclerosing cholangitis. The MHC class III allele C4A-QO is significantly increased in autoimmune hepatitis type 1 and 2 and in primary biliary cirrhosis. Advances in immunogenetics will certainly increase our knowledge of the etiology and pathogenesis of immune-mediated liver diseases, which hopefully will lead to more specific therapeutic interventions.

Chronic Disease↗
PubMed1983

Mathematical immunogenetics I. Mathematics as language.

This paper summarizes approaches to developing mathematics that can act as a language for immunogenetics. The need for this has been documented by showing inadequacies of the standard symbolism. Apparent distinctions in symbolizing and conceptualizing factors involved in immunogenetics are seen to disappear in the mathematical models presented here. One model, a three-fold Boolean matrix factorization, subsumes all approaches to the idea of specificity and yet is general enough to incorporate data beyond that found only in a reaction matrix.

Antibody Specificity↗
PubMed1998

The significance of oligoclonal bands in multiple sclerosis in Japan: relevance of immunogenetic backgrounds.

We compared clinical and demographic features, MRI findings, and HLA profiles of 57 Japanese patients with multiple sclerosis (MS) between groups with and without oligoclonal IgG bands (OCB) in the cerebrospinal fluid (CSF). Patients with the optic-spinal form of MS (OpS-MS) or acute transverse myelopathy (ATM), which are distinctive and relatively common in Japanese MS, were excluded in this study. The OCB-positive rate was only 56.1% (32/57) among these 57 'conventional' MS patients, of whom clinical features were similar to those of Western MS patients. The demographic features, clinical course, disability, and cerebral abnormalities seen on MRI were similar in the OCB-negative and OCB-positive patient groups. HLA-DR2 antigen, which has been confirmed to be associated with MS in many populations, was more common in the OCB-positive than in the OCB-negative and control groups. Furthermore, DR4 antigen was statistically more common in the OCB-negative patient group. These results raise the possibility that the presence of OCB is related to the immunogenetic background of the patient, and that there may be at least two subpopulations in Japanese patients with 'conventional' MS from the viewpoint of immunogenetics. In one subpopulations, MS is associated with the DR2 antigen, and shows a stronger humoral immune response in the CSF, while in the other MS is associated with DR4, which has a milder humoral response. Further investigations involving more patients are warranted.

Adult↗
PubMed1987

The impact of symbolism on immunogenetics: an application to HLA.

The genes coding for the class I human lymphocyte antigens (HLA) are located on chromosome 6. These antigens are involved with the immunological interaction between cells. In some immunogenetic systems, such as HLA in humans, genes are defined by antibody/antigen reaction and are denoted by single symbolic identifiers. This symbolization assumes a one-to-one correspondence between antibodies, antigens and genes. Recent molecular studies, however, suggest that HLA antibody/antigen reaction is complex and most HLA class I specific antibodies may not uniquely identify a single allelic product. Where cross-reactivity is present in an immunogenetic system it is important to label each reagent with symbols corresponding to all genes coding for antigens with which the reagent will react. The problems of cross-reactive groups and unexplained linkage relations may be elucidated by the redefinition and clarification of certain HLA antigens. A computer program can suggest such labelling schemes using input given by phenotype reaction patterns with a panel of reagents. When this program was applied to data on the class I HLA antigens a genetic model was suggested that differs somewhat from the currently accepted model. The new model is able to predict what would appear as linkage relations in the accepted model. Our methodology can provide alternate models to guide in typing cloned genes in terms of the HLA locus and alleles.

Chromosome Mapping↗
PubMed2001

Immunogenetics and genomics.

Immunogenetic analysis of disease susceptibility has been encouraged by the identification of strong HLA associations with several diseases of uncertain cause. Weaker HLA associations exist with a large number of infectious and non-infectious diseases and the mechanisms of these effects are beginning to be uncovered. Extensive analyses of non-HLA immunogenetic variants have also been undertaken and associations with a variety of genes identified. Genetic linkage analysis of multicase families has recently identified new major susceptibility loci for a few immunologically determined common diseases. However, the greatest potential for the future lies in genome-wide searches for susceptibility genes that individually might have quite modest effects but cumulatively have a large impact on individual risk. This new era of immunogenomics promises to provide key insights into disease pathogenesis and identify multiple molecular targets for intervention strategies.

Cytokines↗
PubMed1998

IMGT, the International ImMunoGeneTics database.

IMGT, the international ImMunoGeneTics database, is an integrated database specialising in Immunoglobulins (Ig), T cell Receptors (TcR) and Major Histocompatibility Complex (MHC) of all vertebrate species, created by Marie-Paule Lefranc, CNRS, Montpellier II University, Montpellier, France (lefranc@ligm.crbm.cnrs-mop.fr). IMGT includes three databases: LIGM-DB (for Ig and TcR), MHC/HLA-DB and PRIMER-DB (the last two in development). IMGT comprises expertly annotated sequences and alignment tables. LIGM-DB contains more than 23 000 Immunoglobulin and T cell Receptor sequences from 78 species. MHC/HLA-DB contains Class I and Class II Human Leucocyte Antigen alignment tables. An IMGT tool, DNAPLOT, developed for Ig, TcR and MHC sequence alignments, is also available. IMGT works in close collaboration with the EMBL database. IMGT goals are to establish a common data access to all immunogenetics data, including nucleotide and protein sequences, oligonucleotide primers, gene maps and other genetic data of Ig, TcR and MHC molecules, and to provide a graphical user friendly data access. IMGT has important implications in medical research (repertoire in autoimmune diseases, AIDS, leukemias, lymphomas), therapeutical approaches (antibody engineering), genome diversity and genome evolution studies. IMGT is freely available at http://imgt.cnusc.fr:8104

Amino Acid Sequence↗
PubMed2000

A large, single center investigation of the immunogenetic factors affecting liver transplantation.

BACKGROUND: Reports on the relevance of immunogenetic factors in liver transplantation are often conflicting or inconclusive. We have, therefore, investigated a range of factors that may underlie liver graft survival. METHODS: The influences of HLA, flow cytometric, and enhanced cytotoxic crossmatching and immunoglobulin (Ig)A levels on graft survival, and acute and chronic rejection were investigated for a single center involving 446 patients over 13 years. RESULTS: The effect of HLA mismatching on graft survival was significant (P<10(-2)) and was reversed in recipients with autoimmune diseases (P<0.5x10(-2)), whereas the effect of HLA mismatches on the level of acute rejection was detrimental in all recipients. There was a significant effect of a positive cytotoxic crossmatch on 3-month (P<10(-5)) and 1-year (P<10(-4)) graft survival, and an additional effect of the flow cytometric crossmatch was seen for chronic rejection (P<10(-2)) and acute rejection (P<10(-2)). Recipients with HLA-A1,B8,DRB1*0301 had higher levels of acute rejection (P<0.5x10(-2)), and recipients who received an ABO compatible-nonidentical transplant have a significantly higher risk (P<10(-2)) of developing chronic rejection. Finally, the beneficial effect of high serum IgA and, specifically, IgA anti Fab, seen in renal transplants was not evident in liver transplants, and in fact the opposite may be true, at least for acute rejection (P<0.5x10(-2)). CONCLUSIONS: By separating the recipients with autoimmune disease from other patients and by including acute and chronic rejection as outcome parameters, we have used the power of a large single-centre study to delineate the significance of some of the important immunogenetic factors involved in liver transplantation.

ABO Blood-Group System↗
PubMed2006

Immunogenetic factors determining the evolution of T-cell large granular lymphocyte leukaemia and associated cytopenias.

T-cell large granular lymphocyte leukaemia (T-LGL) is a chronic clonal proliferation of cytotoxic T lymphocytes (CTL). T-LGL presents with cytopenias, often accompanied by autoimmune diseases, suggesting clonal transformation arising from an initially polyclonal immune response. Various immunogenetic predisposition factors, previously described for both immune-mediated bone marrow failure and autoimmune conditions, may promote T-LGL evolution and/or development of cytopenias. The association of T-LGL was analysed with a number of immunogenetic factors in 66 patients, including human leucocyte antigen (HLA) and killer-cell immunoglobulin-like receptor (KIR) genotype, KIR/KIR-L mismatch, CTLA-4 (+49 A/G),CD16-158V/F, CD45 polymorphisms, cytokine single nucleotide polymorphisms including: TNF-alpha (-308G/A), TGF-beta1 (codons 10 C/T, 25 G/C), IL-10 (-1082 G/A), IL-6 (-174 C/G), and IFN-gamma(+874 T/A). A statistically significant increase in A/A genotype for TNF-alpha-308, IL-10-1082, andCTLA-4 +49 was observed in T-LGL patients compared with control, suggesting that the G allele serves a protective role in each case. No association was found between specific KIR/HLA profile and disease. KIR/KIR-L analysis revealed significant mismatches between KIR3DL2 and KIR2DS1 and their ligands HLA-A3/11 and HLA-C group 2 (P = 0.03 and 0.01 respectively); the biological relevance of this finding is questionable. The significance of additional genetic polymorphisms and their clinical correlation to evolution of T-LGL requires future analysis.

Adult↗
PubMed1976

The use of early embryo aggregation derived mouse chimaeras. III. A tool of immunogenetics.

Early embryo aggregation derived chimaeras have proven a valuable tool to biologists concerned with various aspects of mammalian development. The use of this model is discussed here in respect of its application to the field of immunogenetics and also to possible future exploitation. Chimaeras have already provided information concerning various areas of immunogenetics ranging from tolerance, control of antibody response, allotype expression, gene transfer and its possible influence upon the immune response. These are reviewed here.

Aging↗
PubMed1976

Immunogenetic factors in aetiology of pre-eclampsia/eclampsia (gestosis).

The evidence that genetic and immunogenetic influences operate in the causation of pre-eclampsia/eclampsia (gestosis) is reviewed. The problems of definitive diagnosis are discussed along with the possibility of a multifactorial aetiology. The difficulties of differentiating trigger and effector mechanisms are also considered. It is concluded that there is evidence for a predisposition, probably genetic, operating in some cases, an immunogenetic mechanism in others, and chromosomal factors in a small group.

Aneuploidy↗
PubMed1992

Immunogenetic and hormonal study of cryptorchidism.

Ninety-four cryptorchids, 50 monolateral and 44 bilateral, aged from 2-9.4 yr (mean, 5.1 +/- 0.5 yr), were studied for the hormonal and immunogenetic profile. Pituitary-gonadal function was studied by evaluation of basal and peak GnRH-stimulated serum FSH and LH. In 83 cases, the serum testosterone (T) level was measured before and after CG treatment. No significant differences, between patients and age-matched controls, were found in either FSH or LH levels, whether under basal conditions or after GHRH stimulation. The mean basal serum T level was similar in mono and bilateral cryptorchids and in controls but, on the 15th day after treatment, it was significantly lower in the bilateral cryptorchids (P less than 0.05). CG administration led to testicular descent in 42 patients (23 with monolateral and 19 with bilateral cryptorchidism) and failed in 41 (21 with monolateral and 20 with bilateral cryptorchidism), independently of T increase. Immunogenetic investigation demonstrated that HLA-A11 and A23 were significantly overrepresented in the whole group of cryptorchids in comparison with the controls (P = 0.004 and P = 0.0123, respectively). HLA-A11 was more common in the bilateral form (P less than 0.05), whereas HLA-A29 was more frequent in the monolateral one (P less than 0.05). Forty percent of the bilateral cryptorchids with unsuccessful treatment had the HLA-A11 allele (P less than 0.01) and 70% the HLA-DR5.

Child↗
PubMed2003

Familial dilated cardiomyopathy: evidence for clinical and immunogenetic heterogeneity.

BACKGROUND: There is increasing awareness of the familial nature of dilated cardiomyopathy (DCM). Mutations in the genes coding for cytoskeletal and sarcomere proteins have been identified. Phenotyping of familial DCM (FDCM) may help to improve genetic diagnosis. The aim of our study was to evaluate the clinical features, pattern of transmission, and immunogenetic data of FDCM. MATERIAL/METHODS: We obtained family histories in order to construct pedigrees and prospectively evaluated 204 family members of 27 patients with angiographically proven DCM. FDCM was defined as more than 1 person with DCM in a family. The study protocol included repeated clinical examination, electrocardiography, echocardiography and blood sampling. RESULTS: Among the families, we identified the following phenotypes: DCM with conduction defects (n=2), early onset DCM with a rapid course in male relatives (n=2), and DCM preceded by ventricular arrhythmia (n=1). The remaining families presented with a heterogeneous course of the disease. The disease was transmitted in an autosomal dominant fashion in 14 of our pedigrees, possibly X-linked in three and indeterminate in 10 sib-pairs. The frequency of the DRB1*04 allele was low in probands with the disease (3/20, 15%); heterozygozity for DRB1*03/DRB1*04, known to increase susceptibility to IDDM1, was identified in 2 of 20 DCM probands (10%). CONCLUSIONS: Familial dilated cardiomyopathy is a heterogeneous disorder; autosomal dominant transmission is most common. The distinct clinical phenotypes and specific immunogenetic features found in some families indicate that different pathogenetic mechanisms can lead to the

Adolescent↗
PubMed2003

IMGT, the international ImMunoGeneTics information system, http://imgt.cines.fr: the reference in immunoinformatics.

IMGT, the international ImMunoGeneTics information system (http://imgt.cines.fr), is a high quality integrated information system specializing in immunoglobulins (IG), T cell receptors (TR), major histocompatibility complex (MHC) and related proteins of the immune system of human and other vertebrates, created in 1989, by the Laboratoire d'ImmunoGénétique Moléculaire (LIGM), at the Université Montpellier II, CNRS, Montpellier, France. IMGT is the global reference in immunogenetics and immunoinformatics and provides a common access to standardized data which include nucleotide and protein sequences, oligonucleotide primers, gene maps, genetic polymorphisms, specificities, 2D and 3D structures. IMGT includes three sequence databases (IMGT/LIGM-DB, IMGT/MHC-DB hosted at EBI, IMGT/PRIMER-DB), one genome database (IMGT/GENE-DB), one 3D structure database (IMGT/3Dstructure-DB), Web resources comprising 8000 HTML pages ("IMGT Marie-Paule page") and interactive tools for sequence (IMGT/V-QUEST, IMGT/JunctionAnalysis, IMGT/Allele-Align, IMGT/PhyloGene) and genome (IMGT/GeneSearch, IMGT/GeneView, IMGT/LocusView) analysis. IMGT data are expertly annotated according to the rules of the IMGT Scientific chart, based on the IMGT-ONTOLOGY concepts. IMGT tools are particularly useful for the analysis of the IG and TR repertoires in physiological normal and pathological situations. IMGT has important applications in medical research (repertoire analysis in autoimmune diseases, AIDS, leukemias, lymphomas, myelomas), biotechnology related to antibody engineering (phage displays, combinatorial libraries) and therapeutic approaches (graft, immunotherapy). IMGT is freely available at http://imgt.cines.fr.

Animals↗
PubMed2005

Immunogenetics Sequence Annotation: the Strategy of IMGT based on IMGT-ONTOLOGY.

IMGT, the international ImMunoGeneTics information system((R))(http://imgt.cines.fr) created in 1989, by the Laboratoire d'ImmunoGénétique Moléculaire (LIGM), Université Montpellier II and CNRS, Montpellier, France, is a high quality integrated information system, secialized in immunoglobulins (IG), T cell receptors (TR), major histocompatibility complex of human and other vertebrates and related proteins of the immune system that belong to the IgSF and Mhc superfamilies. IMGT/LIGM-DB, the first and the largest IMGT database, manages more than 92,000 IG and TR nucleotide sequences from human and 150 other vertebrate species in May 2005. IMGT/LIGM-DB provides expertly annotated sequences and standardized knowledge based on IMGT-ONTOLOGY, the first ontology for immunogenetics and immunoinformatics. The strategy developed by IMGT, for the IG and TR nucleotide sequence annotation, involves two different approaches that depend on the nature of the sequences, genomic DNA (gDNA) or complementary DNA (cDNA).

Animals↗
PubMedDate not supplied

Behçet's disease: familial clustering and immunogenetics.

Behçet's disease (BD) is a relapsing, multisystemic inflammatory disorder, characterized by major symptoms consisting of recurrent orogenital ulcerations, eye and skin lesions. Other clinical features may include musculoskeletal, vascular, gastrointestinal, renal, cardiopulmonary or neurological involvement. Vasculitis affecting all types and sizes of blood vessels is the main histopathologic process, in a third of cases complicated by thrombosis. The etiopathogenesis is presently unknown, but BD likely represents the result of a peculiar immune response to hitherto unidentified environmental factors in genetically predisposed subjects. The prevalent distribution in a specific geographical area spanning the Mediterranean basin and Asia, the close association with human leukocyte antigen B*51 in different ethnic groups, and the familial clustering of BD are hallmarks accounting for the strong contribution of a genetic background. The BD familial aggregation is characterized by both genetic anticipation and higher prevalence in childhood patients, likely defining a subset with stronger immunogenetic influences. Polymorphisms in genes encoding for host effector molecules may have a supplementary role in disease susceptibility and/or severity. The contribution of prothrombotic mutations and polymorphisms in the pathogenesis of BD thrombosis is controversial. In this paper, the available reports on BD familial clustering and the evidence for the role of immunogenetic predisposing factors are reviewed.

Behcet Syndrome↗
PubMed1980

Blood groups : immunogenetic markers in primate animals and their use in breeding and standardization.

The importance of immunogenetics for definition and standardization of laboratory animals has been demonstrated by their successful application for breeding of laboratory mice and rats, and in planned breeding of large domestic animals. Among the immunogenetic markers used, blood groups are the best known and generally considered as the most important. For close to two decades, serology and genetics of blood groups have been investigated by this Laboratory in the most commonly used laboratory primates, namely, macaques, (rhesus, crab-eating, pig-tailed and bonnet), baboon (olive, yellow and hamadryas) as well as chimpanzees. Blood groups of many other primate species have also been surveyed but in a less intensive manner. Blood groups of apes and monkeys are defined by standard methods of human serohematology, using both reagents developed for typing human blood and reagents obtained from the sera of immunized primate animals. The presently available reagents define, depending on species, between 10 and 25 blood groups in macaques, 20 to 25 blood groups in baboons and 45 types in chimpanzees. The available blood group genetic markers will be listed and their value for standardization and breeding of laboratory primates will be discussed.

Animals↗
PubMed1996

Adult seronegative arthritis with antinuclear antibodies: a distinct group of patients with a different immunogenetic pattern from seropositive rheumatoid arthritis and a good outcome.

To determine whether patients with rheumatoid factor (RF)-negative, antinuclear antibody (ANA)-positive oligo/polyarthritis are clinically and immunogenetically distinct from RF-positive rheumatoid arthritis (RA) and whether this subset of patients is the adult counterpart of early-onset pauciarticular juvenile chronic arthritis (EOPA JCA), we retrospectively studied 20 adult patients with RF-negative, ANA-positive arthritis. After a median duration of 3.25 years, only half of our patients had active synovitis. Seventy-five per cent were completely or reasonably self-sufficient according to the HAQ index. In contrast to the results in a group of 30 RF-positive RA patients, the percentage of patients having at least one of the susceptibility alleles (HLA DR1 or HLA-DR4) was not significantly higher in patients with RF-negative, ANA-positive arthritis than in controls. Furthermore, none of our RF-negative, ANA-positive patients had two susceptibility alleles, whereas 16.5% of RF-positive RA patients had both DR1 and DR4 or DR4 homozygosity. In conclusion, our results show that patients with RF-negative, ANA-positive oligo/polyarthritis are immunogenetically distinct from RF-positive RA and tend to have a better articular prognosis. The absence of typical ocular features and of the characteristic HLA-DR markers suggests that these patients cannot be considered as the adult counterpart of EOPA JCA.

Adult↗
PubMedDate not supplied

[The immunogenetic indices of children ill with tuberculosis].

The author presents results of immunogenetic and immunologic studies in pediatric patients with tuberculosis. Certain HLA-antigens associated with susceptibility and resistance to primary tuberculosis were disclosed. Immunologic indices were found to be related to immunogenetic ones.

Child↗