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At least 415 records · Page 23Linked to original sources
PubMed2005

Analysis of VH gene sequences using two web-based immunogenetics resources gives different results, but the affinity maturation status of chronic lymphocytic leukaemia clones as assessed from either of the resulting data sets has no prognostic significance.

Some cellular and molecular features of chronic lymphocytic leukaemia (CLL) cells that are associated with prognosis may reflect the context within which their progenitors encountered antigen. It follows that the nature of antigen drive in CLL could influence the clinical course and we were prompted to assess the impact, if any, of affinity maturation (an antigen-driven process) on prognosis. Statistical models for assessing affinity maturation status are typically applied to V(H) gene sequence data analysed using a web-based resource like IMGT or VBASE. Since these resources differ with respect to some key relevant features, we evaluated a cohort of CLL cases by applying statistical models to V(H) data derived from both IMGT and VBASE. Important differences between the resulting data sets became apparent. These resulted from database variance and because IMGT and VBASE define complementarity-determining and framework regions (CDRs, FRs) in different ways. Thus, the numbers of mutations identified and their distribution between CDRs/FRs varied between the data sets for the majority of clones. Consequently, two different but overlapping sets of cases with evidence of affinity maturation were defined. Notwithstanding their differences, no significant associations of affinity maturation status with CD38 expression, p53 functional status or survival were identifiable in either data set.

ADP-ribosyl Cyclase↗
PubMed1999

Cis-trans complementation of DQA1-DQB1 genes are modulated by DQ alleles: an immunogenetics analysis of DQ association with the down-regulatory function of CD8 cells in trichosanthin-induced immunosuppression.

The initiation of a CD8 cell-mediated pathway (M+) was adopted as a phenotypic trait to analyse genetic predisposition in trichosanthin (Tk)-induced immuno-suppression. Tk is a natural protein antigen with 247 amino acid residues. Based on DNA typing for DR, DQ, DP and TAP genes, data in this paper indicate that only DQ genes were primarily involved and that the alleles DQA1*0501 and DQB1*0201 were strongly associated with the M+ phenotype in cis (on DR3 haplotype) or trans (on DR5/DR7 heterozygotes) complementation. This is consistent with our observation that only the DQ-positive cells were capable of expanding after being co-cultured with Tk for 96 h. Two points of interest were noted. (1) The susceptible haplotype DRB1*0301-DQA1*0501-DQB1*0201 showed an association with the M+ phenotype only if combined with DRB1*04-, DRB1*08-, or DRB1*09-related haplotypes. When co-presented with DRB1*11-, DRB1*15-, DRB1*07-related haplotypes, however, no cis complementation could be detected. A detailed analysis of the association patterns indicated that the DQB1 locus of the non-susceptible haplotypes was the main factor for up- or down-modulation. (2) For M+ phenotype-related trans complementation in Tk-induced suppression, it was found that not only DQA1*0501-DQB1*0201 (DR5/7) alleles, but also associated DQA1*0301-DQB1*0201 (DR4/7, 9/7) alleles, were involved. The allele DQB1*0201 was not associated with the DQA1 alleles in DRB1*01-, DRB1*15-, DRB1*13-, DRB1*07-related haplotypes. The results obtained indicate that there are some additional genetic factors involved in the functional expression of cis and trans complementation of DQA1 and DQB1 genes, among which the DQ alleles play a critical role as self-regulators.

Alleles↗
PubMed2000

Immunogenetics of hepatitis C virus.

Hepatitis C is a complex disease and a significant public health problem. The long-term outcome of HCV infection is difficult to predict, as the virus may be eliminated or may persist to establish a chronic infection. Further investigation is required to clarify factors that determine or influence the outcome of infection, although unique host factors appear to significantly affect the prognosis for infected patients.

Chronic Disease↗
PubMed2000

Cerebral malaria and immunogenetics.

Cerebral malaria depends largely on the capacity of Plasmodium falciparum infected red blood cells to adhere to the endothelia of microvessels, leading to their occlusion. The most important players include receptors expressed on the surface of the endothelial cell and known to interact with the parasite, cytokines modulating the expression of these adhesion molecules and nitric oxide (NO). Platelets, monocytes and lymphocytes have the ability to adhere to these endothelial receptors and to one another, leading to a more complex situation and an increase in the degree of vessel occlusion. The polymorphism of all these molecules, implicated either in adhesion, in modulation of this adhesion or activation of the expression of diverse endothelial mediators should be an important field of study. Polymorphism of five of these molecules has been explored so far: ICAM-1, TNF-alpha, IL-1-beta, inducible NOS and complement receptor-1 (CR-1). To these studies can be added those concerning mannose binding protein (MBP), a protein playing a role in innate immunity, and the class-I antigen HLA-B53. To date, the only clear cut result concerns TNF-alpha. With the other polymorphisms, either no association is found (IL-1RA, CR-1, MBP), or the results are geographically heterogeneous (ICAM-1, HLA-B53), or contradictory (iNOS2). Most often, the candidate gene approach has been followed, as part of case control studies. One of the main problems in this approach is the difficulty of establishing the control cohort. This difficulty disappears in family studies, which include their own controls. So far, the only results based on complex segregation analysis have been focused on parasite multiplication and not on cerebral malaria.

Animals↗
PubMed2005

Complex interactions: the immunogenetics of human leukocyte antigen and killer cell immunoglobulin-like receptors.

The killer cell immunoglobulin-like receptors (KIR) for human leukocyte antigen (HLA) modulate innate and adaptive immunity by controlling effector cells. HLA and KIR are encoded in genomic regions that have complex organization and exhibit exceptional diversity within and among human population groups. This diversity is likely to have arisen to combat a constantly evolving pathogen challenge. Numerous variations influence the expression level or function of KIR molecules and can affect their interaction with HLA, with important implications for the immune response. The functional variety of natural immune responses that are controlled by HLA and KIR interactions is genetically determined and maintained by natural selection.

Animals↗
PubMed1999

Immunogenetic properties of genes.

A most surprising finding is that when injected into animal tissue naked DNA is taken up and expressed by cells with great efficiency. The DNA is given as a plasmid that includes a promoter and an enhancer. When inoculated, the DNA is not stably integrated within the chromosomal DNA, but persists as extrachromosomal nuclear episomes. Both purified DNA and RNA have been shown to be expressed in somatic cells. It is now well established that injection of DNA by many routes may result in in vivo expression and that the proteins become immunogenic. DNA vaccines seem to induce efficient and complete immune responses. The immunizations produce long-term humoral and cellular responses, qualitatively similar to live attenuated vaccines but without the safety hazards of infectious agents. Recently, the first human DNA vaccinations were reported.

Antigen Presentation↗
PubMed2001

Immunogenetic analysis of variable regions encoding AB1 and gamma-type AB2 antibodies from the NeuGc-containing ganglioside family.

The variable regions from P3, a murine monoclonal antibody (MAb) against NeuGc-containing gangliosides, and two anti-idiotype MAbs directed to P3 MAb were cloned and sequenced. Comparisons with previously reported sequences showed that P3 is a germline antibody encoded by genes from the V(H)Q52 and V(kappa)19 families. Analysis of nucleotides at the heavy chain CDR3 (H-CDR3) showed the presence of an extensive 3' N region that contains almost 50% of the nucleotides of this CDR. In addition, amino acid sequence analysis of the H-CDRs of this MAb revealed the presence of three arginines, two of which are present in the H-CDR3, that could be involved in the interaction of P3 MAb with its electronegative epitope on gangliosides. Anti-idiotype 1E10, which seems to define a "regulatory" idiotope on P3 MAb (it induces Id+ Ab3), represents a germline Ab2 that belongs to the V(H)J558 and V(kappa)10 gene families. By contrary, the anti-idiotype 3B11 is an extensively mutated antibody that belongs to the V(H)3660 and V(kappa)4/5 gene families, defining a "private" idiotope on P3 MAb. Even when different V genes contribute to the variable regions of 1E10 and 3B11 MAbs, they share an acidic motif E/D-D-Y/D-Y-D in H-CDR3, suggesting that both Ab2s recognize paratope positive residues on the Ab1. Therefore, complementary electrostatic interactions involving H-CDR3 from both Ab1 and Ab2, might provide a clue to understand the molecular basis for the generation of gamma-type anti-idiotype antibodies to V regions recognizing glycolylated ganglioside antigens.

Amino Acid Sequence↗
PubMed2000

Interleukin-1 and the immunogenetics of Alzheimer disease.

Established genetic causes of familial Alzheimer disease (AD) involve genes for beta-amyloid precursor protein (betaAPP), presenilin-1, and presenilin-2. For the more common sporadic forms of AD, increased risk has been associated with a number of genes; the most important of which is the epsilon4 allele of apolipoprotein E. Two recent studies, one clinical and one using postmortem material, now show increased risk for AD associated with certain polymorphisms in the genes encoding the alpha and beta isoforms of interleukin-1 (IL-1). IL-1 levels are elevated in Alzheimer brain, and overexpression of IL-1 is associated with beta-amyloid plaque progression. IL-1 interacts with the gene products of several other known or suspected genetic risk factors for AD, including betaAPP, apolipoprotein E, alpha1-antichymotrypsin, and alpha2-macroglobulin. IL-1 overexpression is also associated with environmental risk factors for AD, including normal aging and head trauma. These observations suggest an important pathogenic role for IL-1, and for IL-1-driven cascades, in the pathogenesis of AD.

Alzheimer Disease↗