Pemphigus Vulgaris Autoantibody Response is Linked to HLA-DQB10503 in Pakistani Patients

Delgado, Julio; Hameed, A.; Yunis, Juan J.; Bhol, Kailash; Rojas, Adriana I.; Rehman, Simeen B; Khan, Ayesha; Ahmad, Mukhtar; Alper, Chester A.; Ahmed, Aftab; Yunis, Edmond J.

doi:10.1016/s0198-8859(97)00203-6

Cited by 63 publications

(63 citation statements)

References 33 publications

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“…Our results confirm previous reports showing a strong association of PV with DQB1*0503 which is in linkage disequilibrium with DR14 alleles [3,4,5,8,10,12,13,14,15,16,17]. Since the DQB1*0503 PV patients had various DRB1*14 related alleles, one alternative The AA residues are shown using the letter code.…”

Section: Pemphigus Vulgarissupporting

confidence: 90%

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HLA Class II Polymorphism Contributes to Specify Desmoglein Derived Peptides in Pemphigus Vulgaris and Pemphigus Foliaceus

Loiseau

Lecleach²,

Prost

et al. 2000

Journal of Autoimmunity

110

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Section: Pemphigus Vulgarissupporting

confidence: 90%

“…The DRB1*1401 or 1404 alleles were found associated with PV in non-Jewish patients of European ancestry (Italy, Sardinia, Spain, Boston area) [3,4,5,6] and in Asian populations (India, Pakistan, Japan) [12,13,14,15,16,17].…”

Section: Drb1mentioning

confidence: 96%

HLA Class II Polymorphism Contributes to Specify Desmoglein Derived Peptides in Pemphigus Vulgaris and Pemphigus Foliaceus

Loiseau

Lecleach²,

Prost

et al. 2000

Journal of Autoimmunity

110

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“…However, population studies of patients with PV have clearly shown that there are differences among the most prevalent alleles in various ethnic groups (summarized in Table 1). Nine DRB1 alleles have been associated with PV (DRB1*0402, *0403, *0406, *0802, *0804, *1401, *1404, *1405, *1408) in 11 distinct populations [12][13][14][15][16][17][18][19][20]. Two DQB1 alleles, DQB1*0302 and DQB1*0503, are associated with PV patients across the world as well [9,12,13,15,19,21].…”

Section: Introductionmentioning

confidence: 99%

Disease Relevant HLA Class II Alleles Isolated by Genotypic, Haplotypic, and Sequence Analysis in North American Caucasians with Pemphigus Vulgaris

Lee¹,

Lendas²,

Chow³

et al. 2007

Human Immunology

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Early studies of genetic susceptibility to pemphigus vulgaris (PV) showed associations between human leukocyte antigen (HLA) DR4 and DR6 and disease. The emergence of DNA sequencing techniques has implicated numerous DRB1 and DQB1 loci in various populations, leading to confusion regarding which exact alleles confer susceptibility. The strong linkage disequilibrium among DR and DQ HLA alleles further complicates the investigation of the true susceptibility loci. In this study, we report genotyping data for the largest sampling of North American Caucasian nonJewish and Ashkenazi Jewish PV patients studied to date and compare our data with other population studies. To pinpoint true susceptibility, alleles among overrepresented sequences, we applied a step-wise reductionist analysis through (1) determination of the degree of linkage disequilibrium (LD) between purportedly associated alleles, (2) haplotype frequencies comparisons, and (3) primary sequence comparisons of disease-associated versus non-disease-associated alleles to identify crucial differences in amino acid residues in putative peptide binding pockets. Collectively, our data provide extended support for the hypothesis that the HLA associations in Caucasian PV patients map to DRB1*0402 and DQB1*0503 alone. Further structure-function studies will be required to define the exact mechanisms of HLA-mediated control of susceptibility and resistance to disease. Human Immunology 68, 630 -643 (2007).

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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

136

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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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Pemphigus Vulgaris Autoantibody Response is Linked to HLA-DQB10503 in Pakistani Patients

Cited by 63 publications

References 33 publications

HLA Class II Polymorphism Contributes to Specify Desmoglein Derived Peptides in Pemphigus Vulgaris and Pemphigus Foliaceus

HLA Class II Polymorphism Contributes to Specify Desmoglein Derived Peptides in Pemphigus Vulgaris and Pemphigus Foliaceus

Disease Relevant HLA Class II Alleles Isolated by Genotypic, Haplotypic, and Sequence Analysis in North American Caucasians with Pemphigus Vulgaris

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

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