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Biomedical subjects

G Hauptmann

Publications and source records attributed to G Hauptmann.

At least 145 records · Page 8Linked to original sources
PubMed1976

Bf polymorphism: study of a new variant (F0.55).

A variant band in the Bf polymorphism has been found in the serum of a healthy women, her mother, her sister, and two brothers. By direct comparison the band was found to migrate faster than F but slower than F1. It is highly probable that the band represents a new allele at the Bf locus, Bf 0.55. The new allele was transmitted in this family together with the HLA haplotype A11, B27.

Alleles↗
PubMed1976

[Angioneurotic hereditary edema. 3 faimilial cases].

The study involved three families with hane. This disorder differs from the simple condition by its preferential visceral localisation (digestive and, above all, the glottis), its hereditary nature and the existence of a biological abnormality affecting the serum complement system (absence of enzyme activity of C1 esterase inhibitor in the serum of sufferers). The cases reported illustrate the serious prognosis of this condition (four deaths by asphyxia in one family) in the absence of specific therapy. This disorder, although rare, represents a fundamental problem in general pathology by virtue of the enzymatic, immunological and genetic processes which it involves.

Adolescent↗
PubMed1976

[Polymorphism of factor B of the properdin system (C3PA, GBG, and Bf) and histocompatibility-complement linkage].

Several recent studies have shown that the genetic polymorphism of factor B of the Properdin system (GBG or Bf) is closely linked to the major histocompatibility complex (MHC). The genetic polymorphism of Bf, a component of the alternate pathway of complement activation, is revealed by "immunofixation" technique after prolonged high voltage agarose electrophoresis. In this report, we describe technique for the Bf grouping and give the results in two families showing the linkage between HL-A and Bf loci. The study of a family with a recombinant between the second HL-A locus (SD-2) and the major MLC locus (LD-1) provides evidence that the Bf locus is not located outside the MLC's because the Bf allele remains linked to the SD-2 allele. In this family, a crossover occurs between Bf and LD-1, and since crossovers between Bf and SD-2 have already been discovered, it is now possible to locate the Bf locus between SD-2 and LD-1. The Bf phenotypes were determined in the serum of 247 normal unrelated caucasian individuals from the area of Strasbourg. The calculated allele frequencies in this population are: BfS=0.757, BfF=0.219, BfS1=0.014, BfF1=0.010. These allele frequencies are intermediary between those found by ALPER and RITTNER. The linkage between MHC and the complement system is now even more evident after the discovery that genes involved in the synthesis of the second and fourth complement components also belong to the MHC on the chromosome 6. These linkages were demonstrated by the study of several families with hereditary C2 deficiency in the U.S.A., and one family with C4 deficiency discovered in Strasbourg. C2 deficiency was found to be associated with three kinds of HL-A haplotypes (HL-A 10, W18; HL-A 2, W18 and HL-A2, 4A2) and the LD-7a specificity. In the family with C4 deficiency, the C4 deficient gene is associated with the HL-A haplotype 2, T3, W10 and a new hitherto unknown MLC type "Re". The linkage between C4 and MHC has been demonstrated recently also in the mouse (the Ss protein in the complement C4 fraction in the mouse) and in the guinea pig. The significance of the genetic linkage between some important components of the complement system and MHC is still unknown. It appears necessary to study all the genetic markers located within or in the vicinity of the MHC region on the chromosome 6 in investigations of the relationship between "pathologic states and HL-A antigens".

Alleles↗
PubMed1976

Cold lymphocytotoxins. Chromatographical study.

A chromatographical study was made of eight antisera containing either anti-HL-A antibodies, cold lymphocytotoxins, or a mixture of both types of antibodies. The results vary according to the sera obtained. Usually cold lymphocytotoxins are sited in the IgM peak and anti-HL-A antibodies in the IgG peak, but there are some sera where anti-HL-A reactivity is IgM and cold lymphocytotoxic reactivity is IgG.

Antibodies↗
PubMed1975

[Acquired C1-esterase inhibitor deficiencies during lymphoid syndromes].

Very marked abnormalities of the complement system were discovered in two patients suffering from a lymphoid syndrome and an IgM 7S dysglobulinaemia. The abnormalities in the complement system were related to a deficiency in C1-estérase (C1 INH). Several findings suggest that such a deficiency is acquired, in particular the absence of any family history of angio-neurotic oedema and, above all, the detection of a marked fall in levels of the C1 fraction which does not exist in the congenital form of deficiency of the inhibitor. The IgM 7S immunoglobulins found in the serum of both patients are probably responsible for the abnormalities in the complement system observed. Such acquired deficiencies in C1 INH are extremely rare since only a few cases have been reported in the literaute, in particular two cases in patients with lymphosarcoma with a serum IgM 7S.

Aged↗
PubMed1975

Lymphosarcoma, cold urticaria, IgG1 monoclonal cryoglobulin and complement abnormalities.

A patient with lymphosarcoma and cold urticaria showed evidence of complement activation by the classical pathway with low levels of the early complement components, normal levels of late acting components, normal functioning of the alternate pathway and reduction of the C1-inhibitor level. The serum contained an IgG1 monoclonal cryoglobulin responsible for the complement activation. In vitro tests demonstrated a high capacity of the serum to activate C1.

Cold Temperature↗