ArticleFrontiers in immunology2022
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis.
Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- Serum Proteomic Profiling Uncovers Dysregulated Keratinisation and Immune-Related Pathways in Hidradenitis Suppurativa.Experimental dermatology · 2026Article
- Meta-inflammation in Hidradenitis suppurativa: from pathogenic evidence to therapeutic approaches.Frontiers in immunology · 2026Review
- Application of edible fungi in gut microbiota regulation.NPJ science of food · 2025Review
- The Role of Cutaneous B-Cells in Hidradenitis Suppurativa: From Preclinical Evidence to Novel Targeted Therapies.Experimental dermatology · 2025Review
- Hidradenitis Suppurativa Tunnels: Unveiling a Unique Disease Entity.JID innovations : skin science from molecules to population health · 2025Review
- The Acari Hypothesis, VII: accounting for the comorbidity of allergy with other contemporary medical conditions, especially metabolic syndrome.Frontiers in allergy · 2025Article
- Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.International journal of molecular sciences · 2024Article
- An Atlas of the Hidradenitis Suppurativa Transcriptome.Dermatology and therapy · 2024Article
- The Acari Hypothesis, IV: revisiting the role of hygiene in allergy.Frontiers in allergy · 2024Article
- Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?Journal of clinical immunology · 2023Article
- Article
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Authors and funding
18 authors at 7 institutions in 4 countries.
Funding
Abstract
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a multifactorial aetiology that involves a strict interplay between genetic factors, immune dysregulation and lifestyle. Familial forms represent around 40% of total HS cases and show an autosomal dominant mode of inheritance of the disease. In this study, we conducted a whole-exome sequence analysis on an Italian family of 4 members encompassing a vertical transmission of HS. Focusing on rare damaging variants, we identified a rare insertion of one nucleotide (c.225dupA:p.A76Sfs*21) in the
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.