ArticleJCI insight2022
Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions.
Article in JCI insight, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Genotype-phenotype correlations and cancer risk in monogenic epidermodysplasia verruciformis.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026Article
- Comprehensive transcriptome profiling of the chicken bursa infected with the novel variant infectious bursal disease virus.Poultry science · 2026Article
- Reduced TLR3 and TLR9 Expression in Epidermodysplasia Verruciformis: Evidence From a Comparative Skin Study.Journal of medical virology · 2025Article
- DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia.Journal of clinical immunology · 2025Article
- Survival expectations in melanoma patients: a molecular prognostic model associated with aging.Discover oncology · 2025Article
- Whole-Transcriptome Sequencing-Based Profiling of the Cutaneous Virome in Patients with Secondary Immunodeficiency.JID innovations : skin science from molecules to population health · 2024Article
- Incidence Rates and Time Trends of Skin Cancer in Golestan Province, Northeastern Iran, 2005-2018.Archives of Iranian medicine · 2024Article
- Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients.Microorganisms · 2023Article
- Effect of Lacking ZKSCAN3 on Autophagy, Lysosomal Biogenesis and Senescence.International journal of molecular sciences · 2023Article
- Whole transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections.JCI insight · 2023Article
Corrections and comments
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Authors and funding
26 authors at 18 institutions in 6 countries.
Funding
Abstract
Severe viral infections of the skin can occur in patients with inborn errors of immunity (IEI). We report an all-in-one whole-transcriptome sequencing-based method by RNA-Seq on a single skin biopsy for concomitantly identifying the cutaneous virome and the underlying IEI. Skin biopsies were obtained from healthy and lesional skin from patients with cutaneous infections suspected to be of viral origin. RNA-Seq was utilized as the first-tier strategy for unbiased human genome-wide rare variant detection. Reads unaligned to the human genome were utilized for the exploration of 926 viruses in a viral genome catalog. In 9 families studied, the patients carried pathogenic variants in 6 human IEI genes, including IL2RG, WAS, CIB1, STK4, GATA2, and DOCK8. Gene expression profiling also confirmed pathogenicity of the human variants and permitted genome-wide homozygosity mapping, which assisted in identification of candidate genes in consanguineous families. This automated, online, all-in-one computational pipeline, called VirPy, enables simultaneous detection of the viral triggers and the human genetic variants underlying skin lesions in patients with suspected IEI and viral dermatosis.
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Registered trials
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.