Family study of monozygotic twins affected by pemphigus vulgaris

Salathiel, Adriana Martinelli; Brochado, Maria José Franco; Kim, Olivia; Deghaide, Neifi Hassan Saloum; Donadi, Eduardo Antônio; Roselino, Ana Maria Ferreira

doi:10.1016/j.humimm.2016.05.005

Cited by 14 publications

(7 citation statements)

References 29 publications

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“…Moreover, hereditary associations have been seldom reported in the literature and may be relevant to specific populations; the association with certain HLA haplotypes and alleles has been reported in Brazilian subjects with pemphigus 9 , 10 and in family studies conducted in Brazil and in Italy. 11 , 12 Such genetic associations hint at a possible genetic predisposition that may underlie susceptibility to PV and to other autoimmune disorders. In this regard, there is scant and preliminary evidence linking PV to autoimmune comorbidities; the most commonly reported in the literature are autoimmune thyroid diseases, rheumatoid arthritis, type 1 diabetes mellitus, Sjogren’s syndrome, systemic lupus erythematosus, inflammatory bowel diseases, and alopecia areata.…”

Section: Reviewmentioning

confidence: 99%

Role of Rituximab in the Treatment of Pemphigus Vulgaris: Patient Selection and Acceptability

Ciolfi¹,

Sernicola²,

Alaibac³

2022

PPA

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Anti-CD20 monoclonal antibody rituximab is an approved adjuvant treatment, in combination with oral corticosteroids, for patients with pemphigus vulgaris, a severe and potentially life-threatening autoimmune blistering skin disorder. Updated approaches to the management of pemphigus vulgaris support rituximab as a first-line adjuvant treatment to induce remission early in the course of disease; however, its feasibility in the clinical setting is often reduced by a series of limitations, including high cost of this biological drug, physician and patient concern for the risk of adverse reactions, and uncertainty regarding the optimum dosing and schedule of administration. The standard approved rituximab dosages, which are derived from lymphoma protocols, have been recognized to exceed the effective dose required for inducing B cell depletion, since the B cell burden in pemphigus vulgaris is much lower than in lymphoproliferative disorders. To overcome these limitations, recent research has investigated alternative regimens of rituximab, using lower doses of the drug. Moreover, differences in patient and disease characteristics that are highlighted in the literature strongly suggest that therapy should be tailored individually on a case-by-case basis: personalized treatment schedules may be necessary to optimize response to treatment and tolerability in different subjects, with the possibility of repeated infusions for severe forms and in case of relapse. Finally, low-dose regimens of rituximab were suggested to be favorable during the COVID-19 pandemic by providing a lesser degree of immune cell depletion while retaining a sufficient response. In conclusion, the current literature suggests that lower-dose regimens of rituximab are not only tolerable and cost-effective but may also be associated with a positive response in pemphigus vulgaris, comparable to that achieved with higher doses especially in early disease. Further evidence from rigorous clinical trials will be required to optimize lower-dose regimens of RTX and establish their position within the treatment scenario of pemphigus vulgaris.

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Section: Reviewmentioning

confidence: 99%

Role of Rituximab in the Treatment of Pemphigus Vulgaris: Patient Selection and Acceptability

Ciolfi¹,

Sernicola²,

Alaibac³

2022

PPA

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“…[3][4][5][6][7] Over the years, multiple studies have provided mostly circumstantial evidence supporting the possibility that the development of PV may be in part genetically determined. 2,[8][9][10][11][12][13] More recently, a steadily growing number of well-defined genetic elements have been implicated in the pathogenesis of the disease. Beyond the scientific importance of these discoveries, the delineation of the genetic basis underpinning PV is likely to improve our understating of its clinical course and to point at novel therapeutic targets for this disease.…”

Section: Introductionmentioning

confidence: 99%

“…Over the years, multiple studies have provided mostly circumstantial evidence supporting the possibility that the development of PV may be in part genetically determined 2,8–13 . More recently, a steadily growing number of well‐defined genetic elements have been implicated in the pathogenesis of the disease.…”

Section: Introductionmentioning

confidence: 99%

The genetic basis of pemphigus vulgaris

Vodo

Sprecher

2023

JEADV Clinical Practice

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The severe autoimmune blistering disease pemphigus vulgaris (PV) is most probably mainly due to autoantibodies directed against desmosomal components of the epithelium, disrupting cell‐cell adhesion. The precise mechanisms underlying the development of the disease are still unknown, and immunosuppressive medications such as corticosteroids, which are linked to potentially serious adverse effects, are still the mainstay of treatment. Ethnic susceptibility and familial incidence hint to a genetic component to the pathophysiology of PV, which, if identified, could further improve our understanding of PV pathogenesis and lead to the discovery of new therapeutic targets for this potentially fatal condition. In this article, we review the evidence supporting a genetic component in PV and discuss the clinical and therapeutic implications of these discoveries.

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“…iv Epítopo: menor parte de um antígeno capaz de estimular resposta imunológica. [78] . Duas observações endossam a hipótese da participação genética na susceptibilidade ao PV.…”

Section: Imunidade Celularunclassified

“…[2] , porém cinco foram excluídos por inviabilidade da amostra de DNA e um caso por já ter sido identificada consanguinidade, totalizando 31 pacientes com DNA viável [2] e 20 pacientes novos, recrutados no mesmo ambulatório. Apesar de raro [1] , pacientes consanguíneos não devem ser aceitos em estudos caso-controle de frequências alélicas, uma vez que há o risco de aumento da frequência de determinados alelos presentes em uma certa família e que não sejam responsáveis pelo risco de desenvolver a doença [78,90] . [40] .…”

Section: Desenho Do Estudo E Composição Dos Grupos De Casos E Controlesunclassified

Estudo da associação entre os alelos DR e DQ de antígenos de histocompatibilidade leucocitária (HLA) e pênfigo vulgar em pacientes brasileiros

Gil¹

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por todos os estimados ensinamentos em otorrinolaringologia, estomatologia e na área de pesquisa. Obrigado pela confiança e paciência em todo o percurso da pós-graduação. Ao Prof. Dr. Luiz Ubirajara Sennes, pelos conselhos e sugestões na etapa final da tese. Por me aceitar no Programa de Pós-Graduação em Otorrinolaringologia da FMUSP e pelo modo como conduz o Programa de Pós-Graduação. Ao Prof. Dr. Ricardo Ferreira Bento, professor titular de Otorrinolaringologia da FMUSP, por ter me aberto todas as portas que precisei, desde a residência médica até os dias de hoje. Ao Dr. Helcio Rodrigues e ao Prof. Dr. Jorge Kalil, sem os quais o trabalho não seria possível. Disponibilizaram o Laboratório de Imunologia do INCOR e auxiliaram em todos os meios possíveis. À Claudia Borba Rosales, do Laboratório de Imunologia do InCor, por auxiliar na extração e tipificação de DNA, além de ter ensinado todo o processo detalhadamente inúmeras vezes. Ao Dr. Raimar Weber, por me incentivar ao estudo de HLA em pacientes com Pênfigo Vulgar e me permitir realizar a continuidade do seu trabalho. Pela sua prontidão em me ajudar em todos os passos da tese. Ao Dr. Azis Arruda Chagury, pelos conselhos, sugestões e parceria na tipificação e extração do DNA, assim como na descrição do processo. Ao Dr. Ali Mahmoud, por ser um grande amigo, pelas experiências compartilhadas na área de Estomatologia, ajuda no desenvolvimento da pesquisa e por disponibilizar imagens que foram utilizadas na tese. Às secretarias Márcia, Luci e Marileide pelo auxílio em todas os momentos que foi preciso. Sempre com muita generosidade e simpatia. Aos funcionários do Laboratório de Imunologia do InCor, do departamento de Patologia e de Dermatologia do HC-FMUSP, pela parceria durante o período de realização desta pesquisa. À Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) pela concessão de bolsa de estudo de doutorado direto. À Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) pelo financiamento na compra dos kits que viabilizaram o projeto. Aos pacientes dos nossos ambulatórios que se prontificaram a participar do estudo e aceitaram a coleta de sangue.

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Family study of monozygotic twins affected by pemphigus vulgaris

Cited by 14 publications

References 29 publications

Role of Rituximab in the Treatment of Pemphigus Vulgaris: Patient Selection and Acceptability

Role of Rituximab in the Treatment of Pemphigus Vulgaris: Patient Selection and Acceptability

The genetic basis of pemphigus vulgaris

Estudo da associação entre os alelos DR e DQ de antígenos de histocompatibilidade leucocitária (HLA) e pênfigo vulgar em pacientes brasileiros

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