Anti‐laminin‐γ1 pemphigoid in an epitope spreading phenomenon, successfully treated with rituximab

Chai, Zi Teng; Y, Lim; Busmanis, Inny; Pang, Shiu Ming

doi:10.1111/ijd.15656

Cited by 3 publications

(1 citation statement)

References 5 publications

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“…It was further confirmed that direct immunofluorescence using a biopsy of lesioned skin of the left leg showed no IgG, IgA, IgM and complement C3 deposition at the basement membrane zone or on keratinocyte cell surfaces. This patient's serum showed negative IgG, IgA and IgM results on indirect immunofluorescence using normal human skin and indirect immunofluorescence using salt-split skin (22,23). According to ELISAs using commercially available kits (Medical and Biological Laboratories, Co., Ltd.), IgG autoantibodies against Dsg1, Dsg3, BP180, BP230 and COL7 were all negative.…”

Section: Resultsmentioning

confidence: 88%

Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing

Yang,

Gao,

Zhang

et al. 2023

Exp Ther Med

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Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of inherited DEB. In the present study, whole-exome sequencing was conducted on 12 individuals from the same affected family and a rare heterozygous variation was identified in the collagen type VII, α1 (COL7A1) gene, namely c.6859G>A (p.Gly2287Arg). Subsequently, this heterozygous variant was confirmed using Sanger sequencing of individual plasma cell-free DNA (cfDNA) and it was demonstrated for the first time, to the best of our knowledge, that COL7A1 exons can be amplified from plasma cfDNA. Within the large pedigree examined, 14 out of 18 individuals carried the variant, 3 carried the wild type, and one exceptional case, III-9, showed no disease symptoms despite carrying the disease variant. A general association between genotype and phenotype was established. Of note, the mutation landscape indicated that this G2287R variant is primarily reported in Asian countries. In silico structure prediction suggested that the residue resulting from the mutation may affect collagen protein stability. In conclusion, the present study provides evidence for the involvement of the COL7A1 G2287R gene variant in the development of DEB-Pr and highlights the potential utility of cfDNA in genetic disease diagnosis.

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Section: Resultsmentioning

confidence: 88%

Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing

Yang,

Gao,

Zhang

et al. 2023

Exp Ther Med

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Doxycycline/nicotinamide/prednisolone

2022

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Clinical and immunoserological characteristics of anti‐p200 pemphigoid: Comparisons of patients with epitope spreading and non‐epitope spreading

Wang,

Li,

et al. 2024

Int J Dermatology

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BackgroundAnti‐p200 pemphigoid is a rare autoimmune subepidermal blistering disease. Although the phenomenon of epitope spreading has been reported to be common in anti‐p200 pemphigoid, the association between its clinical and immunoserological features has yet to be elucidated.ObjectivesOur aim was to compare the clinical and immunoserological characteristics of anti‐p200 pemphigoid patients with and without epitope spreading.MethodsWe performed a retrospective cohort study encompassing 30 patients with anti‐p200 pemphigoid between January 2015 and December 2022. The clinical and immunoserological characteristics of anti‐p200 pemphigoid were analyzed using combined immunoserological assays.ResultsEpitope spreading was observed in 11 of 30 patients (36.7%) with anti‐p200 pemphigoid. Compared with patients in the non‐epitope spreading group, patients in the epitope spreading group showed more heterogeneous clinical presentations (P = 0.018), a higher proportion of mucosal involvement (P = 0.003), higher Bullous Pemphigoid Disease Area Index (BPDAI) scores for skin erosions/blisters (P = 0.018), mucosal erosions/blisters (P = 0.001), activity (P = 0.017) and total scores (P = 0.022), and required a higher initial dose of prednisone for disease control (P = 0.040).ConclusionsThis study supported the idea that anti‐p200 pemphigoid was prone to epitope spreading. Anti‐p200 pemphigoid patients with epitope spreading are more likely to present heterogeneous clinical phenotypes, frequent mucosal involvement, and a more severe and recalcitrant disease course.

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Anti‐laminin‐γ1 pemphigoid in an epitope spreading phenomenon, successfully treated with rituximab

Cited by 3 publications

References 5 publications

Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing

Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing

Doxycycline/nicotinamide/prednisolone

Clinical and immunoserological characteristics of anti‐p200 pemphigoid: Comparisons of patients with epitope spreading and non‐epitope spreading

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