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A Marcelli

Publications and source records attributed to A Marcelli.

At least 37 records · Page 2Linked to original sources
PubMed1989

MHC related genetic susceptibility to Hodgkin's disease.

The present report describes 4 Caucasoid families, HLA genotyped, with at least 2 affected siblings suffering from Hodgkin's disease. The affected sibling pairs were identical (2 shared haplotypes) in 2 families and haploidentical (1 shared haplotype) in the 2 others. These results together with the data already published provide evidence for a distortion of the segregation of HLA haplotypes: from a total of 43 pairs of siblings reported, the observed repartition is 22, 15, 6 (2, 1, 0 shared haplotypes respectively) instead of 10.75, 21.5, 10.75 (mendelian repartition). The excess of identical siblings pairs (51% instead of 25%) (p less than 10(-5) confirms the existence of a genetic linkage between the chromosomal HLA region and the susceptibility to the disease.

Adolescent↗
PubMed1988

MHC classes I, II, III antigens study in 70 insulin-dependent diabetics with associated auto-immune diseases.

Seventy IDDM patients (insulin-dependent diabetics), 48 females and 22 males, most of them adults at the onset of diabetes, and suffering from at least one other associated autoimmune manifestation (AAM) were studied for HLA A,B,C, DR markers and Bf, C4 complement components. Comparisons were made with 108 normal controls and a series of 287 IDDM patients with juvenile onset (under 25 years) and no patent other autoimmune disease. The increase in frequency of HLA-B8 among IDDM patients with AAM was confirmed (36% versus 20% in controls) (p less than 0.04). The frequency of DR4 among diabetics with AAM (33%) was not significantly different from the normal frequency (27%), and the allelic combination DR3/4 was found in only 13% of IDDM with AAM. Corresponding frequencies in patients with IDDM alone were 66% for DR4 and 34% for DR3/4 (p less than 10(-6) and 10(-3) respectively). These results confirm the heterogeneity of IDDM and support, by genetic arguments, the concept of overlapping entities. The hypothesis of a common background of autoimmunity associated with B8 DR3 can be postulated, while the organ specific target process should be associated with various DR alleles.

Adolescent↗
PubMed1987

[HLA markers and complotypes: risk factors in systemic lupus erythematosus?].

Sixteen simplex and two multiplex families of subjects presenting with systemic lupus erythematosus (SLE) were studied and compared with 108 controls. The frequency of A1, B8 and DR3 alleles reported in the literature was not confirmed. Only the DR3 (chi 2 = 5.45, p less than 0.02, RR = 2.53) and CW4 (chi 2 = 6.72, p less than 0.01) alleles, not yet described by other authors, were noted as being associated with SLE. The DR3 C21 BFS C4 AQ0B1 B8 A1 haplotype was not found with statistically significant frequency (chi 2 = 2.55, p = NS). The distribution of haplotypes within the multiplex families confirmed the absence of link between the major histocompatibility complex and systemic lupus erythematosus. Finally, the association of a null allele of complement was confirmed (chi 2 = 5.08, p less than 0.05), but only the C4 BQ0 allele was associated with SLE (chi 2 = 12.27, p less than 0.001, RR = 3.78) instead of the C4 AQ0 allele reported in the literature as being associated with SLE. Some of the CMH alleles are thought to constitute a risk factor of SLE. The presence of silent alleles of complement (C2 Q0, C4 AQ0 and C4 BQ0) seems to play a decisive role in the occurrence and expression of this disease.

Adult↗
PubMed1986

[Familial studies of systemic lupus erythematosus. HLA markers and complotypes].

Particular susceptibility to systemic lupus erythematosis (SLE) could be due to a certain alleles of class I, II or III of the major histocompatibility complex (MHC). The existence of total hereditary deficiencies of factor 2 or 4 of the complement in this syndrome suggests the presence of silent alleles which could conceivably play a determining role in the appearance of SLE. In this study, the HLA haplotypes and complotypes (C2, C4, Bf) were determined in 20 individuals suffering from SLE, and compared with 108 healthy, genotyped individuals. The results obtained showed a significant increase in the frequency of C4 BQ0 in patients compared with that found in controls (chi 2 = 12.27, p less than 0.001, Relative Risk = 3.78), and confirm the HLA association, DR3/SLE (chi 2 = 5.45, p less than 0.02, RR = 2.53).

Adult↗
PubMed1982

A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus.

In man, a malformation that recalls some of the defects associated with T/t mutants in the mouse is sacral agenesis. We report on a family with a high incidence of sacral malformation, ranging from a complete absence of the sacrum (SA), with or without spina bifida aperta, to a spina bifida occulta (SBO) that could only be detected by x-ray. The condition appeared in a man with four children who were all affect, and thereafter, to varying degrees, in 17 of his 28 descendants. Segregation analysis has been performed in this family, using the Elston and Stewart transmission probability model [1971]. The two traits (SA and SBO) were first studied separated and then together. A fully penetrant major dominant gene is show to cause SA. When the phenotypes SA and SBO are considered together, Mendelian transmission is rejected. This could be explained genetically by two alternative hypotheses: genetic heterogeneity or a dominant major gene transmitted in excess by heterozygotes (tau Aa A = 0.896), suggesting a segregation distortion property of an allele at a T-like locus.

Adult↗
PubMed1982

HLA system and side effects of gold salts and D-penicillamine treatment of rheumatoid arthritis.

Among 67 patients with rheumatoid arthritis treated with gold salts (aurothiopropanol sulphonate) a significant correlation (p less than 10(-2)) was noted between gold toxic reactions, whatever their type, and the HLA antigens A1, B8, Cw7, and DR3. Forty-two patients were genotyped, and a correlation was observed between gold side effects and the haplotype A1 Cw7 B8 DR3 (p less than 10(-2), RR = 8.0). In addition 3 out of 4 cases of renal intolerance to D-penicillamine were observed in patients possessing the Cw7 B8 DR3 haplotype.

Adult↗
PubMed1981

[Autoimmune haemolytic anaemia associated with Hodgkin's disease. Characteristics, prognosis and incidence (author's transl)].

The records of 560 patients treated between 1972 and 1979 were reviewed. Nine patients had both autoimmune haemolytic anemia (AIHA) and Hodgkin's disease; 3 of them belonged to a group of 176 patients in whom a Coomb's test had been systematically performed. The incidence of the association was 1.7%. Five out of 9 patients were in clinical stages III or IV, and 8 had "B" symptoms. All patients were treated with 3 to 6 courses of MOPP followed by irradiation. The survival rate was 56.5% at 89 months. Three patients died, none of AIHA. The discovery of an AIHA at the time of diagnosis or during the course of Hodgkin's disease, the frequent finding of an excess of plasmocytes in Hodgkin's tumours and the negativation of Coomb's test by irradiation of these tumours suggest that the anti-erythrocyte activity originates in the tumoral tissue.

Adolescent↗