Molecular analysis of HLA DRB1 and DQB1 in Italian patients with pemphigus vulgaris

Lombardi, Maria Luisa; Mercuro, O.; Tecame, G.; Fusco, Caterina; Ruocco, Vincenzo; Salerno, Alfredo; Pirozzi, Giuseppe; Manzo, Ciro

doi:10.1111/j.1399-0039.1996.tb02545.x

Cited by 41 publications

(27 citation statements)

References 17 publications

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“…These two DR alleles have strong association with the occurrence of PV in both Jewish and non-Jewish PV populations (40)(41)(42)(43). It has been shown that antigenic peptides bound by MHC II molecules are promiscuous in binding to several allotypes (44)(45)(46), hence, it is conceivable that the same peptides of Dsg3 are bound by both DRB1 alleles associated with susceptibility to PV and presented to T cells.…”

Section: Discussionmentioning

confidence: 99%

Development and characterization of desmoglein-3 specific T cells from patients with pemphigus vulgaris.

et al. 1997

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Pemphigus vulgaris (PV) is a cutaneous autoimmune disease characterized by blister formation in the suprabasilar layers of skin and mucosae and anti-desmoglein-3 (Dsg3) autoantibodies bound to the surface of lesional keratinocytes and circulating in the serum of patients. This disease can be reproduced in neonatal mice by passive transfer of patients' IgG, indicating that humoral immunity plays an important role in the pathogenesis of PV. Currently, the role of T lymphocytes in the development of PV is not clear. Here, we report that three immunoreactive segments of the ectodomain of Dsg3 specifically induced proliferation of T cells from PV patients. We found that T lymphocytes from 13 out of 14 patients responded to at least one of three Dsg3 peptides. T cells from controls and other patient groups did not respond to these Dsg3 peptides. The major T cell population stimulated by these Dsg3 peptides was CD4 positive. Dsg3-specific T cell lines and clones were developed and were shown to express a CD4 positive memory T cell phenotype. Upon stimulation, these cell lines and clones secreted a Th2-like cytokine profile. The Dsg3 responses of these T cells were restricted to HLA-DR, and not -DQ and -DP, of the major histocompatibility complex. This information will help to elucidate the cellular immune abnormalities leading to production of pathogenic IgG autoantibodies in patients with PV. ( J. Clin. Invest. 1997. 99:31-40.)

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Section: Discussionmentioning

confidence: 99%

Development and characterization of desmoglein-3 specific T cells from patients with pemphigus vulgaris.

et al. 1997

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“…Investigations of the HLA class II antigens/alleles have revealed that the HLA-DR4/DRB1*0402 type is present in significant quantities in Jewish and some European PV patients [2, 3, 4]. Recently, genetic susceptibilities associated with DRB1*14, DQA1*01 and DQB1*05 alleles have also been suggested to be implicated with the disease process of PV in a few Oriental populations [6, 7].…”

Section: Introductionmentioning

confidence: 99%

“…While autoantibodies directed against the epidermal cadherins (desmoglein 3/1) are believed to be the cause of the pathology [1], the primary causative agent(s) of the disease remains unknown. Studies at the population level have demonstrated associations between pemphigus (pemphigus vulgaris, PV, and pemphigus foliaceus, PF) and particular HLA haplotypes, suggesting that there may be a genetic predisposition for the disease [2, 3, 4, 5, 6, 7]. …”

Section: Introductionmentioning

confidence: 99%

HLA Class II Allele Associations in Korean Patients with Pemphigus

Kim

et al. 1998

Dermatology

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Background: Studies at the population level have demonstrated associations between pemphigus (pemphigus vulgaris, PV, and pemphigus foliaceus, PF) and particular HLA haplotypes, which suggests that there may be a genetic predisposition for the disease. Objective/Methods: The aim of the present study was to examine the distribution/frequency pattern of HLA class II alleles (DRB1, DQA1 and DQB1) from a group of 30 Korean patients with pemphigus (15 PV and 15 PF) by PCR amplification with sequence-specific primers. Results: In PV, the frequency of DRB1*01 allele was found to be significantly high (p_c = 0.0014); in PF, DRB1*01, DQA1*0302 and DQB1*0603 alleles showed positive associations with statistical significances (p_c = 0.0002, 0.0007 and 0.0067, respectively), when compared with those found in Korean controls. Conclusions: In this small-sample study, findings of allelic frequencies among Korean patients with pemphigus are somewhat different from those found in other populations.

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“…Rare familial cases of PV have been reported (Starzycki et al, 1998). HLA class II allele associations in PV are found with HLA-DR4 (DRB1*0402), DRw14 (DRB1*1041), and DQB1*0503 (Sinha et al, 1988;Ahmed et al, 1990Ahmed et al, , 1991Ahmed et al, , 1993Matzner et al, 1995;Carcassi et al, 1996;Delgado et al, 1996Delgado et al, , 1997Lombardi et al, 1996;Nishikawa et al, 1996;Miyagawa et al, 1997;Mobini et al, 1997a;Loiseau et al, 2000). Asian alleles of the HLA-B15 family, including the allele B*1507, are significantly increased in comparison with normal controls, in Japanese patients with PV-but HLA class l alleles are not changed (Miyagawa et al, 2002).…”

Section: Genetic Backgroundmentioning

confidence: 99%

Pemphigus Vulgaris: Update on Etiopathogenesis, Oral Manifestations, and Management

Scully

Challacombe

2002

Critical Reviews in Oral Biology & Medicine

139

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ABSTRACT:Pemphigus is a group of potentially life-threatening diseases characterized by cutaneous and mucosal blistering. There is a fairly strong genetic background to pemphigus with linkage to HLA class II alleles. Certain ethnic groups, such as Ashkenazi Jews and those of Mediterranean origin, are especially liable to pemphigus. Pemphigus vulgaris (PV), the most common and important variant, is an autoimmune blistering disease characterized by circulating pathogenic IgG antibodies against desmoglein 3 (Dsg3), about half the patients also having Dsg1 autoantibodies. Oral lesions are initially vesiculobullous but readily rupture, new bullae developing as the older ones rupture and ulcerate. Biopsy of perilesional tissue, with histological and immunostaining examinations, is essential to the diagnosis. Serum autoantibodies to either Dsg1 or Dsg3 are best detected by both normal human skin and monkey esophagus or by enzyme-linked immunosorbent assay (ELISA). Before the introduction of corticosteroids, pemphigus vulgaris was typically fatal mainly from dehydration or secondary systemic infections. Current treatment is largely based on systemic immunosuppression using systemic corticosteroids, with azathioprine, dapsone, methotrexate, cyclophosphamide, and gold as adjuvants or alternatives, but mycophenolate mofetil and intravenous immunoglobulins also appear promising.

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Molecular analysis of HLA DRB1 and DQB1 in Italian patients with pemphigus vulgaris

Cited by 41 publications

References 17 publications

Development and characterization of desmoglein-3 specific T cells from patients with pemphigus vulgaris.

Development and characterization of desmoglein-3 specific T cells from patients with pemphigus vulgaris.

HLA Class II Allele Associations in Korean Patients with Pemphigus

Pemphigus Vulgaris: Update on Etiopathogenesis, Oral Manifestations, and Management

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