Pemphigus vulgaris in two pairs of siblings from two unrelated Italian families: Human leukocyte antigen genotypes, ST18 mutation and immunological profile
| Autor: | Laura Ruzzi, Alessia Provini, Elisa De Paolis, Ettore Capoluongo, Cinzia Mazzanti, Adele Salemme, Jo Linda Maria Sinagra, Feliciana Mariotti, Francesco Moro, Giovanni Di Zenzo, Luca Fania |
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| Přispěvatelé: | Fania, L., Moro, F., De Paolis, E., Provini, A., Salemme, A., Mariotti, F., Sinagra, J. L. M., Mazzanti, C., Ruzzi, L., Capoluongo, E., Di Zenzo, G. |
| Rok vydání: | 2020 |
| Předmět: |
Male
Genotype Single-nucleotide polymorphism Dermatology Human leukocyte antigen bullous disease 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Gene Frequency human leukocyte antigen immune system diseases Polymorphism (computer science) medicine pemphigus vulgari HLA-DQ beta-Chains Humans Genetic Predisposition to Disease Allele skin and connective tissue diseases ST18 gene Alleles integumentary system biology Siblings Pemphigus vulgaris General Medicine medicine.disease Repressor Proteins Pemphigus antibodie Haplotypes Italy 030220 oncology & carcinogenesis Immunology Mutation biology.protein Female Antibody HLA-DRB1 Chains |
| Zdroj: | The Journal of dermatologyReferences. 48(2) |
| ISSN: | 1346-8138 |
| Popis: | Pemphigus vulgaris (PV) is an autoimmune intraepithelial bullous disease. Associations with the class II human leukocyte antigen (HLA) alleles and pemphigus vulgaris have been described. Furthermore, an association between the single nucleotide polymorphism of the ST18 gene and pemphigus vulgaris has been reported. We report two pairs of siblings from two unrelated Italian families affected by pemphigus vulgaris, characterizing their genetic and immunological profile. In order to assess the genetic background, HLA-DQA1, HLA-DQB1, HLA-DRB1 and a relevant ST18 polymorphism were investigated. As for the immunological profiles, anti-desmoglein antibodies were analyzed. In family A, the two pemphigus vulgaris patients had the same HLA genetic profile: HLA-DQA1 *01:04/*03:01, HLA-DQB1 *03:02/*05:03 and HLA-DRB1 *04:02/*14:01. The male patient was heterozygous for the ST18 mutation while the female patient had a wild genotype. In family B, the two pemphigus vulgaris patients were both wild type for the ST18 mutation and showed the same HLA genotype: HLA-DQA1 *03:01/*05:08, HLA-DQB1 *03:01/*03:03 and HLA-DRB1 *04:02/*11:01. Our data show a relevant relationship between the HLA profile and pemphigus vulgaris in our Italian families. In family A, all six alleles are frequently associated with pemphigus vulgaris and were expressed only in the two pemphigus patients; and in family B, two of the six alleles are frequently associated with pemphigus vulgaris. No relevant relationship was found between ST18 polymorphism and pemphigus disease. |
| Databáze: | OpenAIRE |
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