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PubMedDate not supplied

[Immunogenetics of chronic ulcerative colitis].

Genetic factors have a definitive role in the etiology of ulcerative colitis (UC). The mode of inheritance suggests a polygenic disease with the penetrance of the genetic factors being strongly influenced by environmental factors. Several studies have been reported associations between UC and the polymorphism of genes that are located in the major histocompatibility complex (MHC) on the short arm of chromosome 6. The human leukocyte antigen (HLA) class II genes are candidates for a role in the pathogenesis of UC, because their products play a central role in the immune response. The MHC region contains numerous immune related genes, and it has now become clear that different alleles of the MHC genes are strongly linked. Association studies have suggested a role for HLA-DR alleles in disease susceptibility to UC. Thus, HLA-DRB1*0103, DRB1*1502 and DRB1*12 were found to be positively associated with UC. On the other hand, the tumor necrosis factor alpha (TNF-alpha) gene encodes a proinflammatory cytokine that is found in increased concentrations in the mucosa of patients with inflammatory bowel disease. The regulation of TNF expression is in part genetically determined because the polymorphisms -238, -308, -863, -857, and -1031 found in the promoter region are associated with increased TNF production. Recent data suggests that TNF polymorphism may be more important in determining susceptibility to UC and these TNF markers could predict response to infusion with chimeric anti-TNF antibody.

Colitis, Ulcerative↗
PubMed1992

[The importance of immunogenetic studies in Itsenko-Cushing disease combined with other endocrine diseases].

Ninety-seven patients suffering from Itsenko [correction of Icenko]-Cushing disease were examined. Analysis was made first of all of the clinical and laboratory signs pointing to the presence of other endocrine diseases to distinguish two groups of patients. The first group included subjects who did not manifest any concomitant diseases. The number of men and women was the same. The second group was made up of patients with associated Itsenko [correction of Icenko]-Cushing disease and other endocrine diseases. In this particular group, women were predominant. The first group patients demonstrated the predominance of the DR7 incidence, the second group that of the DR5. The method of estimating HLA associations identified is proposed. It allows distinguishing specific and nonspecific associations. In Itsenko [correction of Icenko]-Cushing disease, DR7 association is specific, whereas B8 and DR5 associations are unspecific. A specific polyendocrine autoimmune syndrome associated with Itsenko [correction of Icenko]-Cushing disease was revealed. A concept of the pathogenesis of Itsenko [correction of Icenko]-Cushing disease is advanced.

Adult↗
PubMed1992

The iridocyclitis of early onset pauciarticular juvenile rheumatoid arthritis: outcome in immunogenetically characterized patients.

In a cohort of 72 patients with iridocyclitis (iritis) and early onset pauciarticular juvenile rheumatoid arthritis (EOPA-JRA) the course of the eye disease was matched with ocular outcome. Chronicity of inflammation (greater than 6 months/episode) was correlated with complications of eye disease that caused impairment of vision. HLA antigens in these patients were compared with the HLA antigens in a cohort of 77 patients with EOPA-JRA in whom iridocyclitis had failed to develop over a followup of 5 years or longer. HLA-DR5 (11) was correlated with the presence of eye disease, and HLA-DR1 with its absence; HLA-DRw8, which strongly predisposes to EOPA-JRA, was neutral with respect to eye disease.

Arthritis, Juvenile↗
PubMed2005

Invasive group A streptococcal disease: race, hypotension, and immunogenetics.

OBJECTIVE: To determine if there was an association between race and the incidence of hypotension among patients hospitalized for invasive group A streptococcal disease (IGASD). DESIGN: Data were obtained from a retrospective cohort study of IGASD patients. The subjects were hospitalized throughout Florida for IGASD between 1996 and 2000 (N=151). The exposure variable for the current study was race (African Americans, Caucasians). The binary outcome was the presence of hypotension within 48 hours of hospital admission. A sensitivity analysis was performed to determine if a particular human leukocyte antigen (HLA) class II haplotype (DRB1*1501/DQB1*0602) confounded the association between race and the risk of hypotension. IGASD patients possessing this haplotype are less likely to experience hypotension with multiple organ failure. RESULTS: We found that Caucasians had three times the odds of developing hypotension than African Americans (adjusted odds ratio=3.02, 95% confidence interval: 1.10-8.29, P=.03). The sensitivity analysis revealed that the HLA class II haplotype DRB1*1501/DQB1*0602 was most likely not a confounder. CONCLUSIONS: Caucasians were significantly more likely than African Americans to develop the adverse outcome of hypotension within 48 hours of being hospitalized for IGASD. This excess risk is most likely not due to a particular host genetic factor, the HLA class II haplotype DRB1*1501/DQB1*0602.

Black or African American↗
PubMed1991

[Immunogenetic markers (BF, C2, C4, 21-OH, TNF alpha, TCR beta, Ig) and insulin-dependent diabetes in the Tunisian population: serological and molecular study].

48 Tunisian people suffering from the IDDM auto-immune disease were compared to 35 control healthy persons for the polymorphisms of the complement BF, C2 and C4 proteins and genes, of the IgG (Gm allotypes) as well as of the TNF alpha and TCR C beta genes. Our study shows that the BFF1-C4A3-C4BQO and BFS-C4AQ0-C4B1 complotypes are associated to IDDM (RR of 2.97 and 3.07 respectively), as previously reported for other circummediterranean populations. The frequency of the Gm 21.28; 1.17; .. haplotype is increased, but not significantly, among the patients. The RFLP analysis reveals that the 2.65 kb SacI allelic restriction fragment of the C2 gene may be considered as a genetic marker of susceptibility to IDDM because its frequency raises to 0.206 among the patients vs 0.021 in the healthy individuals (p less than 0.001). The frequencies of the C4AQ0 and C4BQ0 alleles are more important among the IDDM patients than within the control sample, but the only C4BQ0 allele frequency is significantly increased. Both C4AQ0 and C4BQO result mainly from deletions. The frequencies of the allelic restriction fragments of the TNF alpha and TCRC beta genes are not significantly different among the patients and the controls. But the small sample size don't allow us to conclude definitively. It would be very interesting to extend the RFLP analysis to the TCR V beta and V alpha gene regions on more numerous samples.

Adolescent↗
PubMedDate not supplied

Immunogenetics of rheumatoid arthritis and juvenile arthritis.

Starting with the historical background and ending with the most recent data obtained by DNA typing, using PCR and oligonucleotide probes, the role of HLA antigens in rheumatoid arthritis (RA) and in several forms of juvenile arthritis (JA) is reviewed. RA is thought to be associated with an epitope of the third hypervariable region of DRB1 which is shared by several alleles including DR4-Dw4, Dw14, Dw15, DR1, DRw14.2, and DRw10. Rheumatoid factor-positive JA is also associated with DR4, but in rheumatoid factor-negative JA DR4 is absent, or markedly decreased, suggesting that it has a protective effect. Typing for the HLA-DP alleles has confirmed the association of pauciarticular JA with DPBI*0201. Recent studies in the author's laboratory have shown that DPB1*0301 is the main susceptibility factor for rheumatoid factor-negative polyarticular onset JA. It is of interest that also adult rheumatoid factor-negative RA patients have an increase of DPB1*0301, suggesting that these two clinical subsets may represent related diseases.

Adult↗
PubMed1991

The immunogenetics of juvenile rheumatoid arthritis.

Recent major advances in understanding the genetic structure of the human leukocyte antigen (HLA) region and how HLA molecules contribute to immune responses have been paralleled by more precise identification of specific HLA genes conferring susceptibility to the various forms of juvenile rheumatoid arthritis (JRA). This article presents current models for HLA-associated autoimmune disease susceptibility and summarizes the HLA Class II alleles currently known to be associated with JRA: primarily DR8, DR5, DR6, and DPw2.1 in pauciarticular onset JRA; and DR4 in rheumatoid factor-positive polyarticular onset JRA. Rheumatoid factor-negative polyarticular onset JRA and systemic onset JRA are variously associated with several of these same genes. Gene interactions and the clinical utility of HLA typing in this disease are also discussed.

Antibody Formation↗