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Biomedical subjects

G Hauptmann

Publications and source records attributed to G Hauptmann.

At least 109 records · Page 6Linked to original sources
PubMed1982

Type I Glanzmann's thrombasthenia segregates independently of Ss and Duffy systems and the A, B, C, factor B, C2 and C4 loci of the HLA complex.

Two patients with type I Glanzmann's thrombasthenia and 20 kindred of these patients belonging to 2 families of the Manouches gipsy tribe have been studied. Quantitative measurements of platelet membrane glycoproteins GP IIb and GP IIIa have made it possible to classify the patients into normal, thrombasthenic or carriers of the thrombasthenic abnormality. We have examined several red cell alloantigens and antigens of the major histocompatibility complex. These studies have shown that: 1) type I Glanzmann's thrombasthenia (GP IIb and IIIa abnormality) segregates independently of Ss and Fy systems and the A, B, C, Bf, C2 and C4 loci of the HLA complex; 2) a rare hemolytically inactive C4 variant segregates in these families but is not associated with the GP IIb and IIIa abnormality.

Blood Platelet Disorders↗
PubMed1982

HLA-A, B, C, DR antigens, Bf, C4 and glyoxalase I (GLO) polymorphisms in French Basques with insulin-dependent diabetes mellitus (IDDM).

The Basques were previously shown to present a high frequency of HLA-B18 and BfF1, which are known to be associated with insulin dependent diabetes mellitus (IDDM). During the VIII International Histocompatibility Workshop, we studied HLA-A, B, C, DR; Bf, C4 and GLO.I polymorphisms in 51 unrelated French Basque IDDM patients and in 50 controls. Haplotypes were established by family studies in all controls and some patients. Two haplotypes were frequently found in the controls: HLA-A1, Bw57, BfS, C4 F1S, DR7 and HLA-Aw30, Cw5, B18, Bf F1, C4Fs degree, DR3. The first one was not found in the patients. All the components of the second haplotype had increased frequencies possibly as a consequence of linkage disequilibrium with HLA-DR3: a highly significant association between IDDM and HLA-DR3 was observed (90.2% vs 24.0%, relative risk (RR) = 29.1, P less than 10(-11)). The HLA-DR4 frequency was slightly increased (37.3% vs 16.0%), and HLA-DR2 was not found. The silent allele C4s degree was particularly associated with early diagnosed IDDM (86.7% in patients with age at onset under 20 years vs 57.1% in other patients, P less than 0.02). The high relative risk for HLA-DR3/DR4 heterozygous vs that of individuals, possibly HLA-DR3 homozygous, supported the hypothesis that two HLA-DR linked genetic factors could be involved in the inheritance of IDDM susceptibility.

Adult↗
PubMed1982

HLA antigens in discoid lupus erythematosus.

HLA-A, B, C and Bf typing was performed in 55 cases of Discoid Lupus Erythematosus (DLE). When both the sex and age of the patient at the onset of the disease were taken into consideration (group I under 40 years, group II over 40), the following increases in antigen frequency were observed: group I: A2 in women, B5, A10 in men; group II: Aw19.2 in women, B8 in both sexes. Nevertheless, if the probability is multiplied by the number of antigens tested, these results are no longer significant.

Adult↗
PubMed1982

[Frequencies of HLA-A, C and Bf antigens in schizophrenic patients originated from Alsace (author's transl)].

A comparison of the frequency of HLA-A, B, C and Bf antigens observed in a group of 75 chronic schizophrenics and in a control group of 184, all strictly from Alsace, does not carry any argument in favour of a strong genetic association between schizophrenia and the antigens studied. In effect, the modifications observed in the schizophrenic sample--decrease in the frequency of A10 and B5 antigens, and increase of A29 and BfF--are not statistically significant when the probabilities are multiplied by the number of tested antigens. These preliminary results however do not permit to exclude the possibility of an association between schizophrenia and the tested antigens.

Adolescent↗
PubMed1982

Structural and functional studies in C1q deficiency.

The sera of two brothers were found totally lacking hemolytic C activity. One of them, a 16-yr-old male, presented a severe lupus-like syndrome, whereas the other was apparently healthy. Immunochemical quantitation of C components in both sera showed depressed levels of C1q, whereas the levels of C1r, C1s, and C1 inhibitor were elevated. C4, C3, C5, factor B, and beta 1H levels were in the normal range. Hemolytic C1 activity was totally lacking. C4 titers were elevated (150% of normal). C2 hemolytic activity was about one-third of normal, and the titers of the terminal components C3-C9 were also reduced in the two siblings. Double immunodiffusion against anti-C1q antiserum showed a partial loss of C1q antigenic determinants in the two siblings. Furthermore, the C1q of both siblings was unable to interact with immunoglobulins or to associate with C1r and C1s. Addition of purified human C1q to the sera restored their total C and C1 hemolytic activity. The dose response to the C1q addition was linear, indicating that the functional deficiency was not due to the presence of a serum inhibitor. Although antigenically deficient in comparison with normal C1q, the abnormal C1q appeared to have a larger m.w., as determined by gel chromatography. Investigation of other members of this family suggests a genetically linked disorder, because four out of six siblings had the same dysfunctional C1q in their serum.

Adolescent↗
PubMed1981

Haplotype study. linkage between HLA--A, B, C and Bf alleles: results obtained by different statistical methods.

325 HLA-A, B and Bf haplotypes obtained from family studies were investigated. In addition, 216 of these were tested for HLA-Cw2, Cw4, Cw5. Four different statistical methods were employed to study 2, 3 or 4 loci gametic associations in order to compare the results obtained by these different methods. Our results were then compared with those of other authors who employed similar methods. Piazza's method, used to identify gametic associations, was not able to show any 3 loci associations in our material. The Delta Standard Method employed in conjunction with Factorial Correspondence Analysis was found suitable for the study of chromosomal prevalence in a population.

Complement Factor B↗
PubMed1981

[Pleural effusion as the presenting feature of rheumatoid disease. The value of the level of complement in the pleural fluid. A propos of 2 cases].

The authors report two cases of rheumatoid pleural effusion where the pleural syndrome preceded the joint manifestations. From a clinical standpoint, there was an effusion of moderate volume, pseudo-purulent in one case and straw coloured in the other. Signs of rheumatoid arthritis developed after a period of seven weeks in the first case and after a few days only in the second. Amongst the various characteristics of the pleural fluid which were analysed, the authors noted the value of a fall in glucose level, the lack of specificity of anti-gamma globulin factors, and the diagnostic value of the fall in pleural complement and its fractions. In view of the difficulty in obtaining specific histological proof by pleural biopsy, the reduced complement level is of valuable assistance in the aetiological diagnosis of rheumatoid pleural effusion, exceptional as a presenting feature.

Aged↗
PubMed1980

Genetic linkage between Bf S0.7 (Bf S1) and HLA-Bw50.

Two hundred and one unrelated French Basque individuals were studied for HLA-A, B, C, DR and Bf polymorphisms. The results show that the Bf S0.7 (Bf S1) variant, which is known to be associated with HLA-Bw21, presents a highly significant linkage disequilibrium with a subtypic specificity, i.e., Bw50 (delta = 0.0123, delta S=100%, P less than 10(-8)). As neither Bf S0.7 variant nor Bw50 antigen is found in Mongoloid populations, it is suggested that in evolutionary terms, the Bf S0.7 mutation is a more recent event than the HLA-Bw21 split.

Alleles↗