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Biomedical subjects

C Raffoux

Publications and source records attributed to C Raffoux.

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

HLA typing in a new family with Fletcher factor deficiency.

In a nonrelated white family, the Fletcher factor level in the father was 0.41 U/ml and in the mother, 0.30 U/ml (controls, 0.75-1.25 U/ml). One sibling with recurrent epistaxis had a level of 0.012 U/ml, whereas the other without tendency to spontaneous bleeding had levels between 0.75 and 0.32 U/ml. This suggests autosomal recessive transmission with clinical symptoms when the defect is homozygous. HLA antigens were studied to determine whether characters of the histocompatibility system and this defect are linked: we determined that the gene(s) of the disease is (are) not shared on the HLA complex.

Adult↗
PubMed1980

[HLA-DRw7 in psoriasis vulgaris].

40 unrelated patients with Psoriasis vulgaris were studied for their HLA-A, B and DRw antigen phenotypes. All underwent a skin biopsy to confirm diagnosis. Like most of the authors, we observed an increase in B13 and B17 antigens (17,50 and 25%) whereas in the healthy population the percentage was (5 and 6,02%) respectively. The strong increase in DRw7 suggests that psoriasis vulgaris was associated with DRw7 antigens, with an unbalanced linkage between the B13 and DRw7 antigens and between the B17 and DRw7 antigens.

Adult↗
PubMed1980

[HLA-DRw typing in 40 patients with psoriasis].

40 unrelated patients with psoriasis vulgaris were studied for their HLA-A, B and DRw antigens phenotypes. All underwent a skin biopsy to confirm diagnosis. Like most of the authors, we observed an increase in B 13 and B 17 antigens (17,50 % and 25 %) whereas in the healthy populations the percentage was (5 % and 6,02 %) respectively. The strongest increase in DRw7 suggest that the psoriasis vulgaris was associated with DRw7 antigens, with a linkage desequilibrium between the B 13 and DRw7 antigens and between the B 17 and DRw7 antigens.

Genetic Linkage↗
PubMed1980

[Genetics of insulin-dependent juvenile diabetes].

Since the works of Singal and al. and Nerup and al., an increase in B 8, B 15 and B 18 antigens has been found in Insulin Dependent Diabetes. Thomson and al., Rubinstein and al. and the authors of this paper have shown an stronger association with DRw 3 and DRw 4 antigens. We investigated the genetic predisposition to juvenile diabetes in 22 families of 48 cases and 96 members. The study of one affected child in each family showed that DRw 3 was found in 63,63% and DRw 4 in 59,59% (healthy 16,22%)--RR = 9,0 and 7,49. The hypothesis of overdominance proposed by Nerup can be confirmed by our data, when I.D.D.M. share two different alleles (DRw 3 and DRw 4). 3 particular haplotypes with linkage imbalance are therefore observed in our series: B 8-Bf S-DRw 3, B 15-Bf F-DRw 4 and B 8-Bf F 1-DRw 3. Our date show a excessive transmission of the diabetic haplotype by parents who are either diabetics or carriers of the gene.

Antigens↗
PubMed1980

[Bf groups in ankylosing spondylitis].

The phenotypes Bf were studied in 50 patients (42 men and 8 women) with definite ankylosing spondylitis and in certain of their relatives. The alleles BfF and BfS were most frequently encountered and the rare allele BfF1 in one case only. There may exist a preferential transmission of the haplotype HLA B27- Bf S. In 11 patients without B27 antigen, the distribution of the phenotypes was similar to that in a control group. It is probable that the locus Bf cannot be used as a preferential marker for ankylosing spondylitis.

Complement Factor B↗
PubMed1979

[Ankylosing spondylitis in monozygous twins. Study of HLA complex (author's transl)].

A study of HLA complex (HLA A, B, C, DRw, Bf, chiddo) in monozygous twins suffering from ankylosing spondylitis with different clinical courses. All the markers studied were identified. The results would tend to suggest that hereditary factors are not alone responsible in the course of ankylosing spondylitis. Furthermore, they are not the sole causative factor of the disease since the literature contains reports of discordant pairs of twins.

Adolescent↗
PubMed1979

Characterization of the human peripheral effector cells mediating antibody dependent cellular cytotoxicity against allogenic cells.

The effector cell populations in human peripheral blood responsible for antibody-dependent cellular cytotoxicity against allogenic cells coated with HLA polyspecific antibodies were investigated using several separation techniques including preparative electrophoresis. Electrophoresis produced a marked effector cells enrichment in a range of 2--5 fractions which exhibited an intermediary electrophoretic mobility. Monocytic cells do not contribute an effector mechanism but minor subsets of polymorphonuclear cells and nylon wool non-adherent non-phagocytic lymphocytes displayed ADCC. Both effector cell populations were found to exhibit a similar electrical charge of cell surface centered around -1.05 micrometer . sec-1 V-1 cm. These observations provided a precise biophysical basis for the identification of effector cells in ADCC.

Adult↗
PubMed1978

Type IIa hyperlipoproteinemia and the HLA system.

The comparative study of a control group made up of 340 healthy subjects, a group of 100 unrelated patients, all showing signs of type II hyperlipoproteinemia and a family of 15 members covering three successive generations, brings to light the highly significant increase of the recurrence of HLA Bw17 antigen and the increase in frequency of HLA Bw35 antigen.

Gene Frequency↗