Experimental and clinical immunogenetics最新文献

Objective: HLA-B27 is strongly associated with ankylosing spondylitis (AS); however, the association is not absolute and additional susceptibility factors in the MHC region could play a role. We studied the influence of polymorphism in the transporter associated with antigen processing (TAP) genes, including point mutations not previously analyzed.

Methods: HLA-B*27 typing and subtyping as well as TAP1 and TAP2 typing were performed by PCR-RFLP. Forty-four AS individuals were compared to 61 ethnically matched random individuals and 35 B*27-positive healthy unrelated individuals as controls.

Results: The frequency of the TAP1B allele was significantly greater in the patient group compared with the random controls (corrected p value (p(c)) = 0.035; odds ratio = 15.8, p = 0.01). A greater frequency was also evident when B*27-positive patients and B*27- positive healthy controls were compared, although it did not reach statistical significance. No differences were observed in TAP2 alleles between the groups studied.

Discussion: We did not find a primary association between TAP2 polymorphism and AS susceptibility. Formal confirmation of a linkage between the TAP and HLA-B loci would probably require family studies.

Kawasaki disease is a febrile disease of children complicated with vasculitis of the coronary arteries and potential aneurysm formation. It has been recognized worldwide and appears to be increasing in frequency. Studies have found that Kawasaki disease is associated with major histocompatibility complex (MHC) class I B antigens. The MHC-class-I-chain-related gene A (MICA) is located near HLA-B. It has a triplet repeat microsatellite polymorphism in the transmembrane region. We investigated the microsatellite polymorphism in children with Kawasaki disease and controls. Seventy children (46 boys), age at diagnosis 1.68 +/- 1.69 years, with Kawasaki who were treated with aspirin as well as intravenous gamma-globulin were enrolled. Control subjects consisted of 154 children (87 boys), age 2.81 +/- 2.12 years. Phenotype frequency of allele A4 in patients with aneurysm formation was significantly lower than in patients without aneurysms [relative risk (RR) = 0.06, 95% confidence interval (CI) = 0.01-0.48, p = 0.00469, pc = 0.0232] and showed a similar tendency when compared with controls. Gene frequency of allele A4 was also significantly lower in patients who developed aneurysms than in patients who did not (RR = 0.07, 95% CI = 0.01-0.57, p = 0.0057, pc = 0.0282). Gene frequency of allele A5 showed a tendency to be higher in patients who developed aneurysms than in controls (RR = 2.35, 95% CI = 0.98-5.63, p = 0.0486, pc = 0. 220). Allele A5.1 tended to be negatively associated with Kawasaki disease (RR = 0.57, 95% CI = 0.35-0.93, p = 0.022, pc = 0.105). Our study showed that allele A4 was negatively associated with coronary aneurysm formation in Kawasaki disease. This suggests that allele A4 protects the children with Kawasaki disease from developing coronary aneurysms after aspirin and gamma globulin therapy.

The complement system is an important defense system of innate immunity. The recent identification of structurally and functionally related complement regulatory proteins in the teleost, barred sand bass (Paralabrax nebulifer), and humans, two species which are separated in evolution by 100 million years, indicates a high level of conservation and the early presence of this defense system in evolution. The complement regulatory protein of barred sand bass, SBP1, is related to both the human alternative pathway regulator factor H, and to the classical pathway regulator C4bp, and displays regulatory activities in both human pathways. In addition, molecules with homology to the recently identified human factor-H-related proteins are also present in the sand bass genome. Here, we summarize the structural and functional aspects of these homologies and discuss the consequences for the evolution of the complement system.

'The Mouse (Mus musculus) T cell Receptor Beta Variable (TRBV), Diversity (TRBD), and Joining (TRBJ) Genes', the 14th report of the 'IMGT Locus in Focus' section, comprises 8 tables entitled: (1) 'Number of mouse (Mus musculus) germline TRBV genes at 6A-C and potential repertoire'; (2) 'Mouse (Mus musculus) germline TRBV genes at 6A-C'; (3) 'Mouse (Mus musculus) TRBV allele table'; (4) 'Mouse (Mus musculus) germline TRBD genes and alleles'; (5) 'Mouse (Mus musculus) germline TRBJ genes'; (6) 'Mouse (Mus musculus) TRBJ allele table'; (7) 'Correspondence between the different mouse (Mus musculus) TRBV gene nomenclatures'; (8) 'Mouse (Mus musculus) TRBV genes and related human TRBV genes'. These tables are available at the IMGT Marie-Paule page from IMGT, the international ImMunoGeneTics database (http://imgt.cines.fr:8104) created by Marie-Paule Lefranc, Université Montpellier II, CNRS, Montpellier, France.

The genetic polymorphism of human C6 was investigated in Germany using an improved technique: polyacrylamide gel isoelectric focusing and subsequent direct immunofixation with monospecific C6 antisera. Typing of C6 was performed on native serum samples from 1,775 unrelated persons. The gene frequencies in the population study were as follows: C6*A 0.6313, C6*B 0.3566 and the rare alleles C6*R 0. 0121. In total, 8 rare allotypes were analysed. The gene frequencies obtained are in good agreement with those previously published.

Recently, a number of experimental models of human inflammatory bowel disease (IBD) of immunological basis have been developed. These have proven useful tools in the study of IBD, allowing a more detailed dissection of the pathogenesis of the disease. Studies from these models have revealed new, important knowledge about environmental factors, cell subset, cytokines and effector molecules in the pathogenesis of IBD. This review focuses on recent advances in the understanding of the development of IBD obtained from adoptive CD4+ T cell transfer models of the disease.