{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T04:46:27Z","timestamp":1788410787157,"version":"build-2803163510"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T00:00:00Z","timestamp":1678924800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Here, we report a case of rubella virus-induced granulomatous dermatitis in a young girl with immunodeficiency caused by <jats:italic>DCLRE1C<\/jats:italic> gene mutations. The patient was a 6-year-old girl who presented with multiple erythematous plaques on the face and limbs. Biopsies of the lesions revealed tuberculoid necrotizing granulomas. No pathogens could be identified on extensive special stains, tissue cultures, or PCR-based microbiology assays. Metagenomic next-generation sequencing analysis revealed the rubella virus. Underlying atypical severe combined immunodeficiency was recognized based on the patient\u2019s history of repetitive infections since birth, low T-cell, B-cell, and NK cell counts, and abnormal immunoglobulins and complements. Whole-exome sequencing revealed the genetic abnormality of the atypical severe combined immunodeficiency (SCID), and compound heterozygous mutations of the <jats:italic>DCLRE1C<\/jats:italic> gene were detected. This report highlights the diagnostic values of metagenomic next-generation sequencing in identifying rare pathogens causing cutaneous granulomas in patients with atypical SCID.<\/jats:p>","DOI":"10.3389\/fgene.2023.1115027","type":"journal-article","created":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T07:04:46Z","timestamp":1678950286000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Case report: Rubella virus-induced cutaneous granulomas in a girl with atypical SCID caused by DCLRE1C gene mutations"],"prefix":"10.3389","volume":"14","author":[{"given":"Sihan","family":"Deng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shijia","family":"Rao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alun R.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,3,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"O656","DOI":"10.1111\/1469-0691.12573","article-title":"Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency","volume":"20","author":"Bodemer","year":"2014","journal-title":"Clin. Microbiol. Infect."},{"key":"B2","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/s10875-018-0581-0","article-title":"Rubella virus-associated cutaneous granulomatous disease: A unique complication in immune-deficient patients, not limited to DNA repair disorders","volume":"39","author":"Buchbinder","year":"2019","journal-title":"J. Clin. Immunol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/j.jaci.2015.03.005","article-title":"Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency","volume":"136","author":"Felgentreff","year":"2015","journal-title":"J. Allergy Clin. Immunol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/j.clim.2011.05.007","article-title":"Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency","volume":"141","author":"Felgentreff","year":"2011","journal-title":"Clin. 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Lett."},{"key":"B9","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1001\/jamadermatol.2021.1577","article-title":"Granulomatous dermatitis associated with rubella virus infection in an adult with immunodeficiency","volume":"157","author":"Shields","year":"2021","journal-title":"JAMA Dermatol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"674226","DOI":"10.3389\/fimmu.2021.674226","article-title":"A novel non-coding variant in DCLRE1C results in deregulated splicing and induces SCID through the generation of a truncated ARTEMIS protein that fails to support V(D)J recombination and DNA damage repair","volume":"12","author":"Strubbe","year":"2021","journal-title":"Front. Immunol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1001\/jamadermatol.2022.0828","article-title":"Association of persistent rubella virus with idiopathic skin granulomas in clinically immunocompetent adults","volume":"158","author":"Wanat","year":"2022","journal-title":"JAMA Dermatol"},{"key":"B12","doi-asserted-by":"publisher","first-page":"677748","DOI":"10.3389\/fgene.2021.677748","article-title":"High-frequency exon deletion of DNA cross-link repair 1C accounting for severe combined immunodeficiency may Be missed by whole-exome sequencing","volume":"12","author":"Xiao","year":"2021","journal-title":"Front. Genet."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2023.1115027\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T07:04:49Z","timestamp":1678950289000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2023.1115027\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,16]]},"references-count":12,"alternative-id":["10.3389\/fgene.2023.1115027"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2023.1115027","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,16]]},"article-number":"1115027"}}