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  1. Article ; Online: Whole transcriptome–based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections

    Amir Hossein Saeidian / Leila Youssefian / Mahtab Naji / Hamidreza Mahmoudi / Samantha M. Barnada / Charles Huang / Karim Naghipoor / Amir Hozhabrpour / Jason S. Park / Flavia Manzo Margiotta / Fatemeh Vahidnezhad / Zahra Saffarian / Kambiz Kamyab-Hesari / Mohammad Tolouei / Niloofar Faraji / Seyyede Zeinab Azimi / Ghazal Namdari / Parvin Mansouri / Jean-Laurent Casanova /
    Vivien Béziat / Emmanuelle Jouanguy / Jouni Uitto / Hassan Vahidnezhad

    JCI Insight, Vol 8, Iss

    2023  Volume 5

    Abstract: HPVs are DNA viruses include approximately 450 types that are classified into 5 genera (α-, β-, γ-, μ-, and ν-HPV). The γ- and β-HPVs are present in low copy numbers in healthy individuals; however, in patients with an inborn error of immunity, certain ... ...

    Abstract HPVs are DNA viruses include approximately 450 types that are classified into 5 genera (α-, β-, γ-, μ-, and ν-HPV). The γ- and β-HPVs are present in low copy numbers in healthy individuals; however, in patients with an inborn error of immunity, certain species of β-HPVs can cause epidermodysplasia verruciformis (EV), manifesting as recalcitrant cutaneous warts and skin cancer. EV presents as either typical or atypical. Manifestations of typical EV are limited to the skin and are caused by abnormal keratinocyte-intrinsic immunity to β-HPVs due to pathogenic sequence variants in TMC6, TMC8, or CIB1. We applied a transcriptome-based computational pipeline, VirPy, to RNA extracted from normal-appearing skin and wart samples of patients with typical EV to explore the viral and human genetic determinants. In 26 patients, 9 distinct biallelic mutations were detected in TMC6, TMC8, and CIB1, 7 of which are previously unreported to our knowledge. Additionally, 20 different HPV species, including 3 α-HPVs, 16 β-HPVs, and 1 γ-HPV, were detected, 8 of which are reported here for the first time to our knowledge in patients with EV (β-HPV-37, -47, -80, -151, and -159; α-HPV-2 and -57; and γ-HPV-128). This study expands the TMC6, TMC8, and CIB1 sequence variant spectrum and implicates new HPV subtypes in the pathogenesis of typical EV.
    Keywords Dermatology ; Genetics ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2023-03-01T00:00:00Z
    Publisher American Society for Clinical investigation
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Whole-transcriptome sequencing–based concomitant detection of viral and human genetic determinants of cutaneous lesions

    Amir Hossein Saeidian / Leila Youssefian / Charles Y. Huang / Fahimeh Palizban / Mahtab Naji / Zahra Saffarian / Hamidreza Mahmoudi / Azadeh Goodarzi / Soheila Sotoudeh / Fatemeh Vahidnezhad / Maliheh Amani / Narjes Tavakoli / Ali Ajami / Samaneh Mozafarpoor / Mehrdad Teimoorian / Saeed Dorgaleleh / Sima Shokri / Mohammad Shenagari / Nima Abedi /
    Sirous Zeinali / Paolo Fortina / Vivien Béziat / Emmanuelle Jouanguy / Jean-Laurent Casanova / Jouni Uitto / Hassan Vahidnezhad

    JCI Insight, Vol 7, Iss

    2022  Volume 8

    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 ... ...

    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.
    Keywords Genetics ; Infectious disease ; Medicine ; R
    Language English
    Publishing date 2022-04-01T00:00:00Z
    Publisher American Society for Clinical investigation
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

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