Immunogenetics of drug-induced bullous diseases.
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Agranulocytosis↗
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Immunogenetics of cell surface antigens of human cancer.
Hybridoma technology, immunohistochemistry and molecular genetic techniques have paved the way for a general serological mapping of molecules expressed on the surface of normal and neoplastic cells. The emerging findings challenge cell lineage-based models of differentiation and point to new, modular concepts to explain complex tumor phenotypes. In parallel studies, the repertoire of T-cell recognized tumor antigens--still mysterious but probably quite distinct from the antibody-defined repertoire--has also become accessible to molecular analysis.
Antigens, Neoplasm↗
The immunogenetics of pemphigus vulgaris.
Pemphigus vulgaris (PV) is an autoimmune blistering disease of the skin of unknown etiology. While various environmental factors have been implicated as triggering agents, HLA association is probably the most important predisposing factor. The aim of this review is to highlight the association of HLA with pemphigus vulgaris. In addition, we present recent results showing a possible association with the nonclassical HLA-G antigen.
Autoimmunity↗
Analysis of children with type 1 diabetes in Korea: high prevalence of specific anti-islet autoantibodies, immunogenetic similarities to Western populations with "unique" haplotypes, and lack of discrimination by aspartic acid at position 57 of DQB.
This study analyzed the expression of anti-islet autoantibodies and HLA-DR and -DQ genotypes in Korean children with type 1 diabetes mellitus (T1DM). The positivity of the anti-ICA512, anti-GAD65, and anti-insulin autoantibodies in the newly onset T1DM patients (n = 15) was 66.7%, 86.7%, and 46.7%, respectively, and all of them had one or more of the autoantibodies. HLA analysis showed higher frequencies of HLA-DRB1*0301, *0405, *09012 and -DQB1*0201, *0401, *03032 alleles in T1DM patients compared to controls (P(c) < 0.05). Because HLA-DQB1*0401, *03032 alleles carry aspartic acid at position 57 of DQB, susceptibility to T1DM in Korean children was not related to the presence of aspartic acid at position 57 of DQB1 locus. We suggest this unique HLA-DR, -DQ allele distribution might be an important factor for the low incidence of T1DM in Korea, and the combined anti-islet autoantibody assays could be valuable screening markers for the early detection of T1DM in Korea.
Adolescent↗
Recent advances in the immunogenetics of human type 1 diabetes.
Type 1 diabetes (T1D), a disorder of glucose homeostasis, is caused by autoimmune destruction of the essential insulin-secreting beta cells in the pancreas. Both genetic and environmental factors contribute to the risk of T1D and, for decades, this complexity has challenged investigators interested in identifying the genes that contribute to this risk. Nevertheless, in recent years, a number of well-supported T1D risk loci have been identified and replicated. Owing to development of more powerful study designs, the availability of dense marker maps, progress in high-throughput genotyping and a better basic understanding of the roles of genes in the immune system, this trend is likely to continue.
Alleles↗
Halo nevus, rather than vitiligo, is a typical dermatologic finding of turner's syndrome: clinical, genetic, and immunogenetic study in 72 patients.
Turner's syndrome (TS) is a genetic disorder caused by numeric and/or structural abnormalities of the X chromosome; it is characterized by short stature, gonadal dysgenesis, and frequently by webbed neck, cubitus valgus, and lymphedema at birth. TS has been associated with several cutaneous abnormalities including an increased frequency of pigmented nevi, but few reports consider nevi in detail. Halo nevus (HN) is clinically defined as a melanocytic nevus surrounded by a halo of depigmentation. Vitiligo, a dermatologic disorder characterized by the presence of depigmented patches on the skin, has been described in the list of cutaneous findings associated with TS. The aim of this study was to determine the prevalence of HN and vitiligo in TS and to evaluate if a correlation between major histocompatibility complex genes, karyotype, autoimmunity, therapies, and the presence of HN exists. Of the 72 patients with TS examined, 13 had HN, a prevalence of 18.05%, which was significantly higher than in our control group (1%; P=.000001). On the contrary, only 2 patients with TS (2.77%, P=not significant) had vitiligo. By comparing the distribution of HLA class I alleles between patients with TS who did (13 of 72) and did not (59 of 72) have HN, we observed a significantly higher frequency of HLA-Cw6 in patients with TS and HN than in those without HN (26.92% vs 6.78%, respectively; P=.0067; odds ratio=5.06). The study of HLA class II genomic polymorphisms showed that the DRB1(*)0701 and DQB1*02 alleles for patients with TS and HN were overrepresented when compared with those without HN (34.61% vs 11.86%, respectively, P=.0078, odds ratio=3.93; and 34.61% vs 19.49%, respectively, P=.1386, odds ratio=2.19). In conclusion, this study is the first to demonstrate an increased prevalence of HN for patients with TS. Furthermore, the data suggest that a HN putative susceptibility gene in TS is located close to the HLA-C locus.
Adolescent↗
Immunogenetics of killer cell immunoglobulin-like receptors.
The killer cell immunoglobulin receptor locus (KIR) on human chromosome 19 encodes activating and inhibitory receptors that are expressed principally by NK cells but also by subpopulations of T cells. For some of the KIR the ligands are known to be MHC class I molecules, for others ligands are elusive. In humans the KIR locus is highly diverse. KIR haplotypes differ in gene content and the individual genes exhibit allelic polymorphism; these two components work together to diversify haplotypes, which in pairwise combination diversify human KIR genotypes. The divergence of KIR between different human populations, as well as between closely related hominoid species, seem likely to be the products of balancing and directional selection upon the functions of KIR-expressing lymphocytes. Consistent with this model are the results of several studies associating KIR differences with disease susceptibility, immune responsiveness and events following allogeneic transplantation.
Bone Marrow Transplantation↗
Immunogenetic analysis of post-schistosomal liver fibrosis.
Schistosomiasis is a major endemic parasitic disease in the world. In China, we have identified two major genes related to the severity of liver fibrosis, one an HLA class II gene, and the other the IL-13 gene. The frequency of the HLA-DRB5*0101 allele and that of the IL-13 promoter A/A (IL-13P- A/A) genotype were elevated in fibrotic patients, although the two genes are located on different chromosomes, chromosomes 6p and 5q, respectively. Subjects with both genotypes had odds ratios (OR=24.5) much higher than the sum of the ratios for each individual genotype (OR=5.1, 95% confidence interval 1.3-24.7 for HLA-DRB5*0101, OR=3.1 95% CI 1.5-6.5 for IL-13P- A/A). Although we have not yet characterized the functional difference between HLA-DRB5*0101 and other alleles, peripheral blood mononuclear cells from IL-13PA/A donors produced much higher amount of mRNA than IL-13PA/B 24 h after the stimulation with PHA. Those findings strongly suggest that the pathogenic Th2 response directly influences the prognosis of post-schistosomal liver fibrosis.
Animals↗
Time frame of pancreas allograft rejection: an immunogenetic analysis in MHC-disparate, presensitized inbred rat strains.
AIM: The pattern of rejection of vascularized pancreas allografts in presensitized recipients was studied among congeneic and recombinant rat strains in order to establish the time frame of rejection. Donors and recipients differed either in their entire MHC or in class I or class II MHC antigens. MATERIAL AND METHODS: Streptozotocin diabetic (55 mg/kg bone weight) recipients underwent an intra-abdominal heterotopic pancreas whole organ transplantation. The exocrine secretion of the pancreas was suppressed by ligation of the duct. Rejection was defined as recurrence of diabetic hyperglycemia exceeding 14 mmol/L, which was subsequently confirmed by histologic examination. The pancreas recipients were presensitized by repetitive donor-specific skin transplants performed 12, 8, and 4 weeks prior to pancreas grafting. RESULTS: The results shown accelerated rejection in all instances. Animals with incompatibility for the entire MHC showed a median rejection time in naive recipients of 12.5 days and in presensitized recipients of 8 days. Class I MHC incompatible native recipients rejected the allografts after 16.5 days (median) and presensitized recipients after 9 days (median). Concerning class II MHC incompatibility rejection appeared in naive recipients after 16 days (median) and in presensitized recipients after 7 days (median). Hyperacute rejection, however, was not observed. DISCUSSION: These results show an accelerated pattern of rejection in all instances caused by donor MHC antigens. Hyperacute rejection, however, was not observed. The effect is slightly pronounced in class II MHC incompatibility. Acceleration of rejection may be caused by stimulation of the humoral as well as the cellular pathway of the immune response. The underlying mechanisms concerning the different MHC incompatibilities, however, remain speculative.
Animals↗
Immunogenetic influences on tick resistance in African cattle with particular reference to trypanotolerant N'Dama (Bos taurus) and trypanosusceptible Gobra zebu (Bos indicus) cattle.
In sub-Saharan Africa, tick infestation and tick-borne infections together with tsetse-transmitted trypanosomosis arguably constitute the main parasitological disease complex constraining livestock production. Resistance to tick attack and tick-borne micro-organisms (TBMs) varies among different breeds of cattle. The magnitude of losses due to these parasites is related to an extent to the degree of breed resistance. Generally, zebu (Bos indicus) cattle possess a higher resistance to ticks and TBMs than European (Bos taurus) cattle. The host's immune system would appear to be the single most important factor that regulates this resistance. This paper reports on the main effector immune mechanisms governing resistance against ticks and TBMs. The cellular immune response appears more effective and stable than humoral immunity in modulating resistance to ticks and TBMs. Similarities between the immune mechanisms employed by trypanotolerant N'Dama (B. taurus) cattle, when infected with trypanosomes, and those elicited by tick bites and TBMs seem to exist, particularly at the skin level in the early phases of parasitic invasion. Moreover, there is evidence that in the N'Dama breed, resistance against ticks per se also has a genetic basis. Therefore, the N'Dama appears to be a unique breed in that it exhibits resistance to several parasitic diseases and/or infections, including helminths, when compared to other cattle breeds in West Africa. It is concluded that the multi-parasite resistant traits of the N'Dama breed should be exploited in those areas where trypanosomosis, ticks and tick-borne diseases constrain animal production. This should be of benefit for low-input farming systems where the use of chemicals for prophylaxis and therapy is limited by their relatively high cost. Additionally, the potential contribution of multiple disease resistant N'Dama cattle should be considered in crossbreeding programmes with exotic dairy breeds for increasing milk production in West Africa.
Africa South of the Sahara↗
[Familial pemphigus vulgaris: immunogenetic study of HLA class II antigens].
INTRODUCTION: Pemphigus vulgaris (PV) is a rare autoimmune bullous disease that affects the skin and mucosae, characterized by the presence of antibodies against desmoglein 3, that causes acantholisis and formation of intraepidermal blisters. Observation of PV cases in several members of the same family suggests the existence of genetic factors that contribute to susceptibility to suffer the disease. However, very few cases of familial PV have been described. Based on its autoimmune nature, many studies have found an association between PV and the HLA class II allele, specifically with the HLA-DRB1*0402 DQB1*0302 and HLA-DRB1*1401 DQB1*0503 haplotypes that bestows a significant risk of disease. OBJECTIVES: Study of three families with PV. PATIENTS AND METHODS: In this study, we present three families, with a total of 7 patients, diagnosed of familial PV. HLA antigens were determined with the PCR (polymerase chain reaction) technique in several members of these families. RESULTS: All the subjects affected were positive for HLA DR4 and HLA DR14. The fact that different families with PV are associated with identical haplotypes and that healthy siblings of the patients have the same haplotype is of special interest. CONCLUSION: These results support the concept of genetic predisposition in this rare disease.
Adult↗
Immunogenetic aspects in primary open-angle glaucoma in family members of Mexican mestizo glaucomatous patients.
We determined antigens of the major histocompatibility complex classes I, II, and III in 25 families of Mexican mestizo glaucomatous patients. Patients and family members were examined, and the predisposition of first-degree relatives to a corticosteroid-provocative test was determined. The results showed a high frequency of the HLA-DR3 antigen in patients with primary open-angle glaucoma compared with controls (32.5% vs 4.0%, P = .001, odds ratio = 10.25). We suggest that the increased presence of the HLA-DR3 antigen could be an important factor in the genetic susceptibility to glaucoma.
Biomarkers↗
Immunity and immunogenetics--new approaches to controlling worm infections in sheep.
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Animals↗
Clinicopathologic and immunogenetic analysis of mucosa-associated lymphoid tissue lymphomas arising in conjunctiva.
PURPOSE: To identify mucosa-associated lymphoid tissue (MALT) type lymphoma in conjunctival infiltrates. METHODS: Clinical, histopathologic, immunophenotypic, and immunogenotypic studies were performed on 14 patients with conjunctival lymphoid infiltrates. Surgical biopsy specimens were subjected to histopathologic, immunohistochemical, and gene rearrangement analysis. RESULTS: Thirteen of the 14 patients (92.9%) met the diagnostic criteria for MALT lymphoma, and the remaining patient showed morphologic features of diffuse, small lymphocytic lymphoma. Genotypic analysis confirmed immunoglobulin heavy chain gene rearrangement in all of the 12 patients on whom the analysis was performed. Two patients with bilateral lesions exhibited identical immunoglobulin rearrangement patterns in each pair of lesions. All patients were alive at the last follow-up (mean: 39.9 months). Nine of the 14 patients were alive without disease, 4 had localized recurrences, and 1 had a residual tumor. CONCLUSIONS: These findings indicate that conjunctival lymphoid infiltrates usually have the features of MALT lymphoma with genotypic B lymphocytic monoclonality and a favorable prognosis.
Adult↗
Immunogenetic studies of rhesus monkeys. VII. A simple hemagglutination technique for blood typing.
A microtiter hemagglutination technique was adapted for routine blood typing of rhesus monkeys. The main advantage of the technique is economy of scarce reagents, since they can be used at greater dilutions and in smaller quantities than in the standard tube technique. Furthermore, the technique is sensitive, accurate, and easy to perform.
Animals↗
Spontaneous diabetes mellitus syndrome in the rat. IV. Immunogenetic interactions of MHC and non-MHC components of the syndrome.
We have examined the frequency of three phenotypic characteristics of the syndrome of spontaneous diabetes (overt IDDM, lymphocytic infiltration of the pancreas, and depression of T lymphocytes) in the offspring of crosses between IDDM BB rats and rats of strains with the same and different RT1 genotypes. On the basis of these observations we propose that there are at least three components of the diabetic syndrome in the rat: (1) a requirement for the RT1u haplotype from the BB strain or a gene in close linkage with the gene coding for this haplotype, (2) a susceptibility for development of insular, periductular, or intraacinar lymphocytic infiltration in the pancreas, and (3) a susceptibility to depression of T lymphocytes. Interactions between these components as well as with other genetic and environmental factors contribute to the full expression of the syndrome.
Animals↗
Immunogenetic factors, HCV genotypes, and HCV recurrence after liver transplantation.
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Alleles↗
The immunogenetics of the antiphospholipid syndrome, anticardiolipin antibodies, and lupus anticoagulant.
Whether a genetic predisposition to develop the antiphospholipid syndrome (APS) and to produce anticardiolipin antibodies (aCL) and lupus anticoagulant (LAC) exists has been addressed by family studies and by population studies on primary APS and on aCL in diseases other than primary APS. Various studies suggest a familial occurrence of aCL and LAC, with or without clinical evidence of APS. This familial tendency could be genetically determined, because APS, aCL, and LAC occur in families carrying haplotypes which contain HLA-DR4, -DR7, and -DRw53. Population studies on primary APS also indicate that HLA genes have a role in conferring susceptibility to develop primary APS. Again, DR4, DR7, and DRw53 are the relevant loci. Population studies on aCL in diseases other than primary APS indicate that aCL are associated with DR4, DR7, and DRw53, at least when they are found in patients with systemic lupus erythematosus. Because HLA-DR4, -DR7, and -DRw53 are in linkage disequilibrium, the genetic association of aCL could be with DRw53 and, depending on the regional frequency of DR4 or DR7, it could be linked with either DR4 or DR7. HLA-DR4 seems to be more important in Anglo-Saxons, whereas DR7 emerges in populations of Latin origin. In this report we review our studies and the pertinent literature in this field.
Animals↗