Pemphigus Vulgaris in Two Sisters

Pg, Stavropoulos; Zarafonitis, G; Petridis, A.; Hashimoto, Takashi; Ke, Harman; Black, Michelle

doi:10.1080/00015550152384380

Cited by 13 publications

(4 citation statements)

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“…In addition to population studies, familial aggregation offers yet another clue for a genetic contribution to PV. Though not common, familial cases of PV have been documented, usually involving a first-degree relative ( 16 – 19 ). Moreover, circulating PV-IgG Abs have been found more frequently in first-degree unaffected relatives of PV patients as compared with healthy controls ( 9 ).…”

Section: Evidence For a Genetic Basis Of 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: Evidence For a Genetic Basis Of Pvmentioning

confidence: 99%

The Genetics of Pemphigus Vulgaris

2018

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“…Familial occurrences of PV have also been documented, albeit infrequently [19]. These cases are rare and typically involve first-degree relatives in parent-child and/or sibling-sibling scenarios [20][21][22][23].…”

Section: Hla Associated With Pemphigus Vulgarismentioning

confidence: 99%

Role of Human Leukocyte Antigen Class II in Antibody-Mediated Skin Disorders

Sernicola,

Mazzetto,

Tartaglia

et al. 2023

Medicina

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HLA class II molecules are key factors determining susceptibility to autoimmune disorders, and their role in immune-mediated skin conditions such as psoriasis has been extensively investigated. However, there is currently little understanding of their role in antibody-mediated skin diseases such as autoimmune blistering disorders. We researched the available literature using PubMed to narratively review the current knowledge on HLA associations in antibody-mediated blistering skin pathologies. Our results summarized the risk alleles that are identified in the literature, together with certain known protective alleles: in the pemphigus group, alleles HLA-DQB1*0503 and HLA-DRB1*0402 are most commonly associated with disease; in the pemphigoid group, the most studied allele is HLA-DQB1*0301; in epidermolysis bullosa acquisita, few genetic studies are available; in dermatitis herpetiformis, the association with haplotypes HLA-DQ2 and HLA-DQ8 is strongly established; finally, in linear IgA bullous disease, specific HLA alleles may be responsible for pediatric presentations. Our current pathogenic understanding of this group of disorders assigns a key role to predisposing HLA class II alleles that are able to bind disease autoantigens and therefore stimulate antigen-specific autoreactive T cells. The latter engage B lymphocytes that will produce pathogenic autoantibodies. The distribution of HLA alleles and their disease associations are variable across demographics, and an in-depth pathogenetic understanding is needed to support associations between HLA alleles and disease phenotypes. Additionally, in a personalized medicine approach, the identification of HLA alleles associated with the risk of disease may become clinically relevant in identifying susceptible subjects that should avoid exposure to known triggers, such as medication, when possible.

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“…Over the last few decades, a large number of observational studies have provided strong evidence for a genetic susceptibility to develop PV. First, though not common, several cases of familial aggregation of PV have been reported, mostly in first‐degree relatives of patients 14–17 . The rarity of such reports can be a least partially explained by the multifactorial nature of PV 1 .…”

Section: Evidence For a Genetic Basis In Pvmentioning

confidence: 99%

“…First, though not common, several cases of familial aggregation of PV have been reported, mostly in first-degree relatives of patients. [14][15][16][17] The rarity of such reports can be a least partially explained by the multifactorial nature of PV. 1 In addition, as compared with healthy controls, a higher frequency of circulating pathogenic IgG auto-abs has been found in first-degree relatives of asymptomatic PV patients.…”

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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Pemphigus Vulgaris in Two Sisters

Cited by 13 publications

References 0 publications

The Genetics of Pemphigus Vulgaris

The Genetics of Pemphigus Vulgaris

Role of Human Leukocyte Antigen Class II in Antibody-Mediated Skin Disorders

The genetic basis of pemphigus vulgaris

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