Study of the association between human leukocyte antigens (<scp>HLA</scp>) and pemphigus vulgaris in Brazilian patients

Gil, Julio Miranda; Weber, Raimar; Rosales, César; Rodrigues, H.; Sennes, Luiz Ubirajara; Kalil, Jorge; Chagury, Azis Arruda; Miziara, Ivan Dieb

doi:10.1111/ijd.13577

Cited by 21 publications

(19 citation statements)

References 39 publications

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“…Over the years, several studies provided evidence regarding association between PV and certain HLA class I alleles. These include HLA-A3, -A26, and -B60 in Han Chinese population ( 56 ), HLA-B38, -C12, -B57, and -C15 in the Brazilian population ( 47 , 61 ), HLA-A10 and -B15 in the Japanese population ( 62 , 63 ), HLA-B35 and -B44 in the Turkish population ( 64 ), HLA-B38 in the Jewish ( 50 ) and in the Spanish ( 45 ) populations, and HLA-B4402, -C0401, and -C1502 in the Iranian population ( 65 ). However, it remains unclear how do HLA class I alleles contribute to PV susceptibility.…”

Section: Association Of Hla Genes With Pvmentioning

confidence: 99%

The Genetics of Pemphigus Vulgaris

2018

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Pemphigus vulgaris (PV) is a severe autoimmune blistering disease caused by auto-antibodies (auto-Abs) directed against epithelial desmosomal components and leading to disruption of cell-cell adhesion. The exact mechanisms underlying the disease pathogenesis remain unknown and treatment is still based on immunosuppressive drugs, such as corticosteroids, which are associated with potentially significant side effects. Ethnic susceptibility, familial occurrence, and autoimmune comorbidity, suggest a genetic component to the pathogenesis of the disease, which, if discovered, could advance our understanding of PV pathogenesis and thereby point to novel therapeutic targets for this life-threatening disorder. In this article, we review the evidence for a genetic basis of PV, summarize the different approaches used to investigate susceptibility traits for the disease and describe past and recent discoveries regarding genes associated with PV, most of which belong to the human leukocyte antigen (HLA) locus with limited data regarding association of non-HLA genes with the disease.

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Section: Association Of Hla Genes With Pvmentioning

confidence: 99%

The Genetics of Pemphigus Vulgaris

2018

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“… 13 Self-reactive T helper lymphocytes that recognize the extracellular domain of the desmogleins appear to be critical in the pathogenesis of the disease, regulating the activation of circulating B lymphocytes. 14 …”

Section: Discussionmentioning

confidence: 99%

Pênfigo Neonatal Em Filho De Mãe Com Pênfigo Vulgar: Relato De Caso

Carvalho

Neto

Carvalho

et al. 2019

Rev. paul. pediatr.

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The cases reported in the literature and the references evaluated reveal that neonatal pemphigus is rare, but that knowledge about the disease allows for an early diagnosis to be made. This has great clinical relevance considering that the disease usually manifests itself in the form of extensive epidermal lesions, even though it is transient and benign, it does not require specific treatment, and it does not have any relation with possible future diseases.

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“…More specifically, DQA1*01:02 has been associated with risk for Alzheimer disease [ 30 ], pemphigus foliaceus [ 31 ] and Parkinson disease [ 32 ] and with protection against celiac disease [ 33 ] and autoimmune polyglandular syndrome type III [ 34 ]. On the other hand, DQA1*03:01 has been associated with susceptibility to pemphigus vulgaris [ 31 , 35 ], to autoimmune polyglandular syndrome [ 34 ] and to type I diabetes [ 36 ] and with protection against Parkinson disease [ 32 ]. No accordance between the roles of these alleles was observed.…”

Section: Discussionmentioning

confidence: 99%

Amino acid signatures in the HLA class II peptide-binding region associated with protection/susceptibility to the severe West Nile Virus disease

et al. 2018

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The MHC class II region in humans is highly polymorphic. Each MHC molecule is formed by an α and a β chain, produced by different genes, creating an antigen-binding groove. In the groove there are several pockets into which antigens anchor and fit. The affinity of this fitting determines the recognition specificity of a given peptide. Here, based on our previous results about the association of MHC class II with the WNV disease, we examined the role of the binding pockets of HLA-DPA1, -DQA1 and–DRB1 in the severe form of the disease. In HLA-DQA1, variants in all pockets 1, 6 and 9 were found to be associated with either protection and/or susceptibility to neuroinvasion caused by WNV. Similarly, pockets 7, 9 and 10 in HLA-DRB1 were associated with severe disease. Protein modeling of these molecules revealed structural and functional differences among alleles with opposite roles concerning the development of the disease. Different amino acids in positions α52 and α66 (HLA-DQA1) significantly influenced the peptide binding while DYWLR/EFA combination (HLA-DRB1) was associated with neuronal damage. Further studies could help us understand the selectivity of pocket variants in order to create suitable peptides for an effective response.

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Study of the association between human leukocyte antigens (HLA) and pemphigus vulgaris in Brazilian patients

Cited by 21 publications

References 39 publications

The Genetics of Pemphigus Vulgaris

The Genetics of Pemphigus Vulgaris

Pênfigo Neonatal Em Filho De Mãe Com Pênfigo Vulgar: Relato De Caso

Amino acid signatures in the HLA class II peptide-binding region associated with protection/susceptibility to the severe West Nile Virus disease

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