Pemphigus vulgaris in two pairs of siblings from two unrelated Italian families: Human leukocyte antigen genotypes, ST18 mutation and immunological profile

Fania, Luca; Moro, Francesco; Paolis, Elisa De; Provini, Alessia; Salemme, Adele; Mariotti, Feliciana; Sinagra, Jo Linda; Mazzanti, Cinzia; Ruzzi, Laura; Capoluongo, Ettore; Zenzo, Giovanni Di

doi:10.1111/1346-8138.15656

Cited by 3 publications

(3 citation statements)

References 16 publications

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“…On the other hand, it has been demonstrated, through a genome-wide association study in the Jewish population, an association between single nucleotide polymorphisms (SNPs) of the ST18 gene and PV ( 161 ). ST18, a regulator of apoptosis and inflammation overexpressed in the skin of PV patients compared to healthy individuals, has been hypothesized to have a role in the pathogenesis of pemphigus provoking an elevated production of TNF-α, IL-1α, and IL-6 and favoring a PV IgG-induced cell–cell altered adhesion ( 162 ) Although in Egyptian, Jewish, and Iranian populations SNPs of ST18 and PV association was reported, in Italian ( 163 ), Chinese and German population no linkage between ST18 SNPs and PV was demonstrated ( 161 , 164 , 165 ). In addition, increased CD59 transcriptional levels have been associated with gene expression, mainly in female subjects, in PF ( 166 ).…”

Section: Predisposing Factorsmentioning

confidence: 99%

Pemphigus: trigger and predisposing factors

Moro,

Sinagra,

Salemme

et al. 2023

Front. Med.

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Pemphigus is a life-threatening autoimmune blistering disease affecting skin and mucous membranes. Despite its etiopathogenesis remains largely unknown, several trigger and predisposing factors have been reported. Pemphigus is caused by autoantibodies that target desmoglein 1 and desmoglein 3, impacting desmosome function. However, circulating autoantibodies are often the consequence of a precipitating factor that occurs in predisposed individuals. This review aims to describe and discuss almost all trigger and predisposing factors reported as possible or probable cause of the disease. Among the reported trigger factors that may induce or exacerbate pemphigus, we have found of particular interest: drug intake (especially thiol- and phenol-containing compounds), vaccines, infections, as well as some reports about pregnancy, radiations, emotional stress, pesticides and physical trauma. Moreover, we discuss the possible role of food intake in pemphigus onset and particular attention is given to dietary factors containing thiol, phenol and tannin compounds. A trigger factor is “the straw that breaks the camel’s back,” and often acts together with predisposing factors. Here we discuss how pemphigus onset may be influenced by genetic susceptibility and comorbidities like thyroid diseases, malignancies and other autoimmune disorders.To identify other hitherto unknown trigger and predisposing factors, well designed prospective studies are needed. In this context, future research should explore their connection with the aim to advance our understanding of pemphigus pathogenesis.

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Section: Predisposing Factorsmentioning

confidence: 99%

Pemphigus: trigger and predisposing factors

Moro,

Sinagra,

Salemme

et al. 2023

Front. Med.

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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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“…Studies have found certain populations (e.g., people of Jewish ancestry, particularly Ashkenazi Jews, and inhabitants of India, Southeast Europe, and the Middle East) are at a greater risk for pemphigus vulgaris. In some places (e.g., North Africa, Turkey, and South America), pemphigus foliaceous is more common than pemphigus vulgaris [5,6].…”

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confidence: 99%

Pemphigus Vulgaris, Current Status and Prospects

KORSANTIA,

KATSITADZE,

KORSANTIA

et al. 2023

jecm

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Pemphigus vulgaris refers to a group of autoimmune blistering diseases of skin and mucous membranes. Like other autoimmune diseases, what causes the pemphigus diseases is not really understood. Researchers believe genetic and environmental factors may influence the disease.The article presents various methods of treatment of pemphigus vulgaris, with its pros and cons. It is important that each method and dosage are properly chosen to achieve a positive therapeutic effect on the background of minimal side effects.

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Pemphigus vulgaris in two pairs of siblings from two unrelated Italian families: Human leukocyte antigen genotypes, ST18 mutation and immunological profile

Cited by 3 publications

References 16 publications

Pemphigus: trigger and predisposing factors

Pemphigus: trigger and predisposing factors

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

Pemphigus Vulgaris, Current Status and Prospects

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