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L Gebuhrer

Publications and source records attributed to L Gebuhrer.

At least 73 records · Page 4Linked to original sources

A division of HLA-DQw1 associated with DR1, DR1x-DQw1, DR2 short, DRw10, and DRw14. I. Definition by alloantiserum LY 1327.

We have identified an alloantiserum, LY 1327, directed against part of DQw1-positive cells. This split of DQw1 includes DR1, DR1x, DR2sh, DRw10, and DRw14; the other DQ-associated specificities, -DR2 long and DRw13, are unreactive. Segregation was ascertained in 11 informative Caucasoid families and in 33 genotyped individuals. DR1x refers to a specificity typing as DR blank DQw1, detected by certain anti-DR1 sera and recognized cellularly by HTC DwBON DR blank DQw1 (A. Cambon, Toulouse). Biochemical analysis by two-dimensional gel electrophoresis and DNA analysis by restriction fragment length polymorphism will be discussed since they support the existence of this division of DQw1.

Epitopes↗

Both HLA-DR and HLA-DQ determinants contribute to HLA-Dw typing.

The respective contribution of HLA-DR and HLA-DQ gene products in the induction of allogeneic proliferative responses in primary mixed lymphocyte reaction and, therefore, in HLA-Dw typing, is still unclear or controversial. This is in part due to a strong linkage disequilibrium between HLA-DR and -DQ genes. We used DR- or DQ-restricted influenza-specific T-cell clones to define DR and DQ products on a large panel of allogeneic antigen presenting cells. With this functional screening assay, we identified two haplotypes with unusual DR/DQ associations. Cells of these haplotypes were then used as responder cells in mixed lymphocyte culture and stimulated by homozygous typing cells displaying DR or DQ incompatibilities. Our results indicate that DR or DQ incompatibilities alone can give rise, in both cases, to strong T-cell proliferation in a mixed lymphocyte reaction. This was further verified by blocking experiments of secondary mixed lymphocyte reactions by HLA-specific monoclonal antibodies. Anti-DQ, but not anti-DR, antibodies inhibited DQ-incompatible responses. Conversely, anti-DR, but not anti-DQ, antibodies could block DR-incompatible mixed lymphocyte reactions. Together, the results suggest that both HLA-DR and DQ gene products can be involved in HLA-Dw typing. Finally, in dual DR- and DQ-incompatible mixed lymphocyte reaction combinations, HLA-DR molecules seem to have an immunodominant effect, because the response is mostly inhibited by anti-DR antibodies. Immunodominance of HLA-DR allodeterminants may, at least in part, explain some of the controversial conclusions reported by others concerning the role of HLA-DQ molecules in HLA-Dw typing.

Antibodies, Monoclonal↗

Cellular and serological subtypes of HLA-DR2.

HLA-DR2 and its subtypes were investigated in informative families and unrelated Caucasoid individuals. Serological and cellular typing indicate that DR2 can be divided into DR2 long and DR2 short (sh), each of which can be further subdivided either by HLA-D typing or primed lymphocyte reagents. DR2 long includes Dw2, Dw12 and a new subtype temporarily called D-GEN. The cellular equivalent of DR2sh was recognized by mixed lymphocyte culture (MLC) practised in a family (family FJO); the typing cell individualized was termed FJO. The reactivity of this cell is compared with similar DR2sh varieties described in other laboratories: MN2 (Bach, Minneapolis), AZH (Brautbar, Jerusalem), DB9 (Layrisse, Caracas). The distinction between FJO, MN2 and AZH is not clear, suggesting the existence of shared epitopes; DB9 cells gave typing responses only in family FJO but typed no one else in our panel. Primed cellular reagents FJO anti Dw2 and Dw2 anti FJO when tested against DR2 subtypes support the distinction between DR2 long and DR2sh. The use of these subgroups of DR2 in functional studies, the biochemical analysis of their class II molecules, the pattern of their DNA recombinant fragments and the correlation established with some diseases will be discussed, since they further contribute to the cleavage between DR2 subtypes.

HLA-D Antigens↗

HLA-A,B,C and DR antigens in a sample of the Tunisian population.

The HLA-A, B and DR phenotypes of 109 unrelated Tunisian individuals have been determined. The HLA-A and B antigen frequencies were compared with data reported for European Caucasoids and various Arab populations. Most similarities in antigen frequencies were seen between Tunisians and Kabyles from North Africa. A high frequency of HLA-A23 and HLA-Bw50 was observed in Tunisians and all Arab populations. A very close similarity in HLA-DR antigen frequencies exists between Tunisians and European Caucasoids. Linkage disequilibria between alleles of HLA loci were examined; many instances of previously reported antigen associations were seen in Tunisians, together with a number of associations which have not been described elsewhere. Aw34B8 and A2DRw14 are suggested as being common haplotypes in Tunisians.

Adult↗

[Absence of HL-A homology in couples presenting repeated miscarriages. Trials with multidonor transfusions].

Maternal tolerance of the fetus involves maternal immuno-regulating mechanisms. The genetic control of this immune response depends on the HL-A system. An extreme HL-A antigenic community between parents might cause a decreased immune response and increased miscarriages. Contrary to some studies from the literature, in our experience, HL-A homology in couples with recurrent miscarriages does not seem significant. This absence of homology may be explained by an extreme polymorphism of HL-A antigens identified and isolated every year. The role of maternal blocking antibodies in maternal tolerance of the fetus is also discussed. The results of a protocol of multi-donor transfusions in 8 patients, is presented and reviewed according to the resulting pregnancies and data from the literature.

Abortion, Habitual↗

Particular interest of HLA typing for genetic counselling in families with congenital adrenal hyperplasia (21-OH deficiency).

The close genetic linkage between 21 hydroxylase deficiency and HLA loci considerably enlarges the possibilities of genetic counselling. Two 21-OH deficient complex families are reported, illustrating several aspects of this genetic counselling: detection of carriers, determination of the actual risk to related couples, suspicion of 21-OH deficiency by an HLA specificity association, and prenatal diagnosis.

Adrenal Hyperplasia, Congenital↗

Highly polymorphic products of both HLA-DR and HLA-DQ genes contribute to the polymorphism of the HLA-DRw13 haplotype.

We studied the polymorphisms of HLA-DR and HLA-DQ products from HLA-DRw13 haplotypes by analyzing the restriction of influenza A-specific cloned T cells from an HLA-DRw13,DQw1,Dw19 homozygous individual. The results show that some functional epitopes, which can be borne by either HLA-DR or HLA-DQ molecules, are strictly correlated with the HLA-Dw19 subtype of HLA-DRw13. This clearly indicates that both HLA-DR and HLA-DQ products contribute to the HLA-Dw19 subdivision of HLA-DRw13. At least two different restricting epitopes are borne by DR products: one is correlated with the HLA-DRw13 serologically defined specificity, which includes Dw19 and Dw18 haplotypes; the other is correlated with the only HLA-Dw19 subtype of HLA-DRw13. Restricting epitopes borne by DQ molecules have been found on Dw19 cells only. DQ-restricted clones were unable to react with DQw1 APC of any other haplotypes tested, including DR1, DR2-long, DR2-short, and DRw14, demonstrating a high degree of functional polymorphism among the serologically defined DQw1 specificities.

Antigen-Presenting Cells↗

Functional definition of HLA-DR and -DQ epitopes specific for DR2-short, DwFJO haplotype.

T-lymphocyte clones specific for the influenza A/Texas virus were obtained by limiting dilution of activated T cells from an HLA A2/3,B7/39,Cw -/-,DR2-short/2 short,DQw1,DwFJO/FJO donor. Among the proliferating clones studied, and irrespective of their antigenic specificities, most of them were restricted by epitope(s) on HLA-DR molecules present only on DR2-short/DwFJO cells but not on DR2-negative or DR2-long positive (Dw2,Dw12,Dw-) cells. Two clones were restricted by epitopes borne by DQ products. Here again, these epitopes were present on DR2-short/DwFJO but not on DR2-long,DQw1 (Dw2,Dw12) cells, indicating that the DQw1 molecules of DR2-long and DR2-short haplotypes are different. Taken together, these results indicate that the DR2-short,DwFJO haplotype is characterized by both HLA-DR- and DQ-specific molecules. Finally, one clone was restricted by an epitope shared by DR products from DR2 short/DwFJO, DRw11, and DRw13 haplotypes. This latter functional determinant has never been described until now.

Antibodies, Monoclonal↗

Despite lack of monospecific anti-DRw13 sera, a corresponding class II determinant can be defined by a DRw13 restricted anti-influenza virus T cell clone.

The study of a T3+ T4+ T8- human T cell clone COTC2 with both specific proliferative response and cytolytic activity for influenza A virus infected cells reveals that: the restricting element of this clone is strongly associated with DRw13 molecule(s) as seen by the study of a large panel of antigen presenting cells (APC) and by the observation that monoclonal antibodies (MoAb) specific for DR molecules inhibit its proliferative activity while anti-DQ MoAb do not. These results indicate that there exists a DRw13 associated determinant that can be defined at the functional level by COTC2 recognition despite the absence of monospecific anti-DRw13 serum. In contrast to the results found by other groups, the restriction of this DRw13 restricted clone follows the DRw13 serological definition irrespective of the DW type of the APC. These results indicate that the polymorphism of HLA class II molecules can be further defined at the functional level by monoclonal populations of T cells in conjunction with molecular definition.

Antibodies, Monoclonal↗

HLA-DR2, -DR5, and DRw6 associated Dw subtypes correlate with HLA-DR beta and -DQ beta restriction fragment length polymorphisms.

DNAs extracted from peripheral blood leukocytes of 24 individuals, selected for their HLA-DR types, -DR2, -DR5, and -DRw6, were analyzed with four restriction enzymes, BamHI, EcoRV, HindIII, and Taq I, using the Southern technique. This panel includes 16 individuals with homozygous typing cells and 8 heterozygous individuals who carry rare Dw subtypes or unusual DR-DQ associations. Eighty-five polymorphic fragments were detected and assigned to the DR or DQ gene families according to their hybridization signals. Thirty-eight fragments (DR or DQ) were found to correlate with single DR or Dw specificities or rare associations such as DRw14-DQw3. Forty-two fragments correlated with the association of immunologically defined specificities. In total, these 85 fragments constituted 44 different patterns, each comprising 1-9 fragments. For each homozygous typing cell a combination of patterns was observed. Fourteen different combinations of 10-20 patterns were found among the 16 individuals with homozygous typing cells, showing that Dw18, Dw19, Dw9, and Dw5 are heterogeneous at the genomic level whereas only the Dw2 individuals tested here are identical.

DNA Restriction Enzymes↗

[Celiac disease].

Coeliac disease (CD) is a malabsorption syndrome mediated by gluten toxicity. In almost all populations studied CD is strongly associated with HLA.DR3 and to a lesser extent with DR7, the frequency of DR2 is often low. There is a highly significant excess of DR3/DR7 heterozygotes. Although the association of CD with HLA has been known for 15 years the mode of transmission is poorly understood. In multiple case families the segregation of haplotypes is in favour of a recessive mode of inheritance with low penetrance. The rare cases of CD negative for DR3 and DR7 are positive for DR4 and negative for DQw2, ruling out the intervention of DQw2 by linkage disequilibrium. A recent study tends to show an hyporesponsiveness of T lymphocytes from patients to an antigenic extract of gluten.

Celiac Disease↗

[Articular chondrocalcinosis. Association with B15 antigen].

Antigens of HLA loci A, B and DR were determined in 35 elderly patients with primary articular chondrocalcinosis and compared with a control population. The B15 antigen was present in 13 out of 35 patients, i.e. 37.1% as against 13% of controls (chi 2 = 13.4; pc = 0.05) and the BW21 antigen in 8 out of 35 patients, i.e. 22.8% as against 6.6% of controls (chi 2 = 10.25; pc less than 0.005). These results confirm those of a previous study carried out in the same unit, which showed a 41% incidence of HLA B15 antigen in patients with chondrocalcinosis. The HLA B15 antigen seems to be a marker of imbalanced binding with a susceptibility antigen. Calculation of the relative risk shows that an elderly subject with HLA B15 antigen if about 4 times more liable to articular chondrocalcinosis than a subject without this antigen.

Aged↗

Genetic epidemiology of coeliac disease.

Segregation analysis favors a gene additive on liability with a frequency of 0.022, which is nearly recessive on the penetrance scale. Less than one-eighth of DR3 and DR7 haplotypes carry a determinant for coeliac disease. There is significant excess of DR3/7 heterozygotes among patients, indicating that the determinants are qualitatively different in DR3 and DR7 haplotypes. Linkage to HLA is highly significant (maximum lod score = 10.9). Evidence for recombination of 8% in males is attributed to residual errors in the model. We suggest an approach to a more precise model.

Celiac Disease↗