Variation in genes implicated in B‐cell development and antibody production affects susceptibility to pemphigus

V Calonga‐Solís, LM Amorim, TDJ Farias… - …, 2021 - Wiley Online Library
A bstract Pemphigus foliaceus (PF) is an autoimmune blistering skin disease characterized
by the presence of pathogenic autoantibodies against desmoglein 1, a component of …

Screening the full leucocyte receptor complex genomic region revealed associations with pemphigus that might be explained by gene regulation

TDJ Farias, DG Augusto, RC de Almeida… - …, 2019 - Wiley Online Library
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 …

Genome‐wide gene expression profiling reveals unsuspected molecular alterations in pemphigus foliaceus

D Malheiros, RA Panepucci, AM Roselino… - …, 2014 - Wiley Online Library
Pemphigus foliaceus (PF) is a complex autoimmune disease characterized by bullous skin
lesions and the presence of antibodies against desmoglein 1. In this study we sought to …

Region 1p13.2 including the RSBN1, PTPN22, AP4B1 and long non‐coding RNA genes does not bear risk factors for endemic pemphigus foliaceus (fogo selvagem)

SC Lobo‐Alves, LA de Oliveira… - International Journal of …, 2019 - Wiley Online Library
Pemphigus foliaceus (PF) is an autoimmune skin disease characterized by autoantibodies
directed mainly against desmoglein‐1. The purpose of this study was to determine whether …

Pemphigus foliaceus and desmoglein 1 gene polymorphism: is there any relationship?

ML Petzl-Erler, D Malheiros - Journal of autoimmunity, 2005 - Elsevier
Transmembrane proteins of the cadherin superfamily, the desmogleins and desmocollins,
mediate intercellular adhesion in desmosomes. Autoantibodies to desmoglein 1 (dsg1) are …

Sparking fire under the skin? Answers from the association of complement genes with pemphigus foliaceus

V Bumiller-Bini, GA Cipolla, RC De Almeida… - Frontiers in …, 2018 - frontiersin.org
Skin blisters of pemphigus foliaceus (PF) present concomitant deposition of autoantibodies
and components of the complement system (CS), whose gene polymorphisms are …

Dissecting the associations of endemic pemphigus foliaceus (Fogo Selvagem) with HLA-DRB1 alleles and genotypes

DP Pavoni, V Roxo, A Marquart Filho… - Genes & Immunity, 2003 - nature.com
Endemic pemphigus foliaceus (EPF) is a blistering skin disease characterized by
autoantibodies against the desmosomal protein desmoglein 1. Genetic and environmental …

Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus

D Malheiros, ML Petzl-Erler - Genes & Immunity, 2009 - nature.com
Following the candidate gene approach we analyzed the CD40L, CD40, BLYS and CD19
genes that participate of B-cell co-stimulation, for association with pemphigus foliaceus (PF) …

A Comparative Analysis of CD32A and CD16A Polymorphisms in Relation to Autoimmune Responses in Pemphigus Diseases and Subepithelial Autoimmune …

J Gornowicz-Porowska, MJ Kowalczyk… - Genes, 2020 - mdpi.com
Autoimmune blistering dermatoses (ABDs) are characterized by autoantibodies to
keratinocyte surface antigens and molecules within the dermal–epidermal junction causing …

Patient genetics shape the autoimmune response in the blistering skin disease pemphigus vulgaris

J Baker, K Seiffert-Sinha, AA Sinha - Frontiers in Immunology, 2023 - frontiersin.org
Background and aim Pemphigus vulgaris (PV) is known to have one of the strongest HLA
associations among autoimmune diseases. DRB1* 0402 and DQB1* 0503 in particular are …