Condemned or Not to Die? Gene Polymorphisms Associated With Cell Death in Pemphigus Foliaceus

Pemphigus foliaceus (PF) is an autoimmune blistering skin disease that occurs sporadically across the globe and is endemic in Brazil. Keratinocyte adhesion loss (acantholysis) is associated with high levels of anti-desmoglein 1 IgG autoantibodies, but the role of cell death is poorly understood in PF. Current evidence disqualifies apoptosis as the major cell death mechanism and no other process has yet been investigated. To approach the role of variation in genes responsible for cell death pathways in pemphigus susceptibility, we systematically investigated the frequencies of 1,167 polymorphisms from genes encoding products of all 12 well-established cell death cascades (intrinsic and extrinsic apoptosis, necrosis, necroptosis, ferroptosis, pyroptosis, parthanatos, entotic, NETotic, lysosome-dependent, autophagy-dependent, and immunogenic). By multivariate logistic regression, we compared allelic and genotypic frequencies of 227 PF patients and 194 controls obtained by microarray hybridization. We found 10 variants associated with PF (p
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research

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Pemphigus foliaceus is an autoimmune disease that is sporadic around the world but endemic in Brazil, where it is known as fogo selvagem (FS). Characterized by autoantibodies against the desmosomal cadherin desmoglein 1, FS causes painful erosions, and crusts that may be widespread. The recognition of antigens, including exposed sugar moieties, activates the complement system. Complement receptor 1 (CR1, CD35), which is responsible for the Knops blood group on erythrocytes (York and McCoy antigens), is also expressed by antigen-presenting cells. This regulates the complement system by removing opsonized antigens, blocking ...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Pemphigus foliaceus (PF) is an autoimmune disease, sporadic across the globe, but endemic in Brazil. A significant portion of PF autoantibodies target desmosomal glycoproteins, especially desmoglein-1, which are associated with the occurrence of painful blisters in the granular skin layer (Spindler et  al., 2007). Epigenetic mechanisms have been implicated in autoimmune skin diseases. Among them, dysregulated DNA and histone methylation contribute to systemic lupus erythematosus (Hung et al., 2018), psoriasis (Manczinger and Kemény, 2013), pemphigus vulgaris (Zhao et al., 2012a), and alopecia areata (Zhao et al., 2012b).
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Letters to the Editor Source Type: research
Pemphigus foliaceus (PF) is an autoimmune disease, sporadic across the globe, but endemic in Brazil. A significant proportion of PF autoantibodies target desmosomal glycoproteins (principally desmoglein-1), associated with painful blisters in the granular skin layer (Spindler et al. 2007). Epigenetic mechanisms have been implicated in autoimmune skin diseases. Among them, dysregulated DNA and histone methylation contribute to systemic lupus erythematosus (SLE) (Hung et al. 2018), psoriasis (Manczinger et al.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Letters to the Editor Source Type: research
er ML Abstract BACKGROUND: Pemphigus foliaceus (PF) is an epidermal autoimmune disease, characterized by the presence of autoantibodies against the desmosomal protein desmoglein 1. Genetic and environmental factors contribute to PF, a complex disease that is endemic in Brazil and Colombia and neighbouring countries, and in Tunisia. Long non-coding RNAs (lncRNAs) may participate in gene regulation by interacting with DNA, proteins, and other RNAs. Dysregulation of lncRNAs has recently been recognized as an important co-player in the onset or progression of complex diseases. In addition, single-nucleotide polymorphi...
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
Abstract Pemphigus foliaceus (PF) is an autoimmune blistering skin disease characterized by the presence of bullous skin lesions, the absence of mucous tissue involvement, and the production of auto-antibodies directed against a keratinocyte transmembrane protein localized in the desmosome and member of the cadherines, desmoglein 1. These pathogenic auto-antibodies are responsible for the intra-epidermal formation of blisters through the loss of keratinocyte adhesion, the so-called acantholysis process. The endemic form of PF observed in the south of Tunisia is characterized by a significantly higher incidence rat...
Source: Journal of Leukocyte Biology - Category: Hematology Authors: Tags: J Leukoc Biol Source Type: research
This article is protected by copyright. All rights reserved. PMID: 30362104 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
Publication date: January 2019Source: Journal of Trace Elements in Medicine and Biology, Volume 51Author(s): Leonardo La Serra, Adriana M. Salathiel, Tânia M.B. Trevilato, Renato I.S. Alves, Susana I. Segura-Muñoz, Vanessa Cristina de Oliveira Souza, Fernando Barbosa Jr., Ana Maria RoselinoAbstractPemphigus foliaceus (PF) and pemphigus vulgaris (PV) are autoimmune bullous diseases; they are endemic in the northeastern region of the state of São Paulo, Southeastern Brazil. Patients’ copper (Cu), zinc (Zn), and selenium (Se) metabolic deficiencies have already been associated with PV pathogenesis in...
Source: Journal of Trace Elements in Medicine and Biology - Category: Biochemistry Source Type: research
Abstract Pemphigus foliaceus (PF) is a blistering autoimmune skin disease rare in most of the world but endemic in certain regions of Brazil. PF is characterized by the detachment of epidermal cells and the presence of autoantibodies against desmoglein 1. In previous studies, we have shown that genetic polymorphisms and variable expression levels of certain leukocyte receptor complex (LRC) genes were associated with PF. However, the role of the LRC on PF susceptibility remained to be investigated. Here, we analyzed 527 tag single nucleotide polymorphisms (SNP) distributed within the 1.5 Mb LRC. After quality contr...
Source: Immunology - Category: Allergy & Immunology Authors: Tags: Immunology Source Type: research
Abstract: Fogo selvagem or endemic pemphigus foliaceus is an autoimmune acantholytic anti-cadherin bullous disease that primarily affects seborrheic areas, which might disseminate. Brazil has the world's largest number of patients, mainly in the Central-West region, but the disease has also been reported in other South American countries. It affects young people and adults who have been exposed to rural areas, with occurrence of familial cases. Anti-desmoglein-1 autoantibodies are directed against desmosomal structures, with loss of adhesion of the upper layers of the epidermis, causing superficial blisters. The etiology i...
Source: Anais Brasileiros de Dermatologia - Category: Dermatology Source Type: research
While environmental factors are critical for the development of autoimmunity, the inciting agents that trigger autoantibody formation remain elusive. We previously reported that autoantibodies in subjects with endemic pemphigus foliaceus likely arise from immune responses against a cross-reactive sand fly antigen. Here, we have investigated the potential role of environmental antigens in triggering autoantibody development in patients with the non-endemic autoimmune skin disease pemphigus vulgaris (PV).
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Adaptive and Auto-Immunity Source Type: research
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