Rubella Virus-Associated Cutaneous Granulomatous Disease : a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

Show simple item record Buchbinder, David Hauck, Fabian Albert, Michael H. Rack, Anita Bakhtiar, Shahrzad Shcherbina, Anna Deripapa, Elena Sullivan, Kathleen E. Perelygina, Ludmila Eloit, Marc Neven, Benedicte Perot, Philippe Moshous, Despina Suarez, Felipe Bodemer, Christine Bonilla, Francisco A. Vaz, Louise E. Krol, Alfons L. Klein, Christoph Seppänen, Mikko Nugent, Diane J. Singh, Jasjit Ochs, Hans D. 2019-03-08T09:59:02Z 2019-03-08T09:59:02Z 2019-01
dc.identifier.citation Buchbinder , D , Hauck , F , Albert , M H , Rack , A , Bakhtiar , S , Shcherbina , A , Deripapa , E , Sullivan , K E , Perelygina , L , Eloit , M , Neven , B , Perot , P , Moshous , D , Suarez , F , Bodemer , C , Bonilla , F A , Vaz , L E , Krol , A L , Klein , C , Seppänen , M , Nugent , D J , Singh , J & Ochs , H D 2019 , ' Rubella Virus-Associated Cutaneous Granulomatous Disease : a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders ' , Journal of Clinical Immunology , vol. 39 , no. 1 , pp. 81-89 .
dc.identifier.other PURE: 123049205
dc.identifier.other PURE UUID: 1944ab24-e4d5-4d3a-8fdb-063aececd3ee
dc.identifier.other WOS: 000458867500015
dc.identifier.other ORCID: /0000-0001-9733-3650/work/55063227
dc.identifier.other Scopus: 85059625040
dc.description.abstract The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported in patients with primary immunodeficiency disorders (PIDs). The majority of these PID patients with rubella-positive granulomas had DNA repair disorders. To support this line of inquiry, we provide additional descriptive data on seven previously reported patients with Nijmegen breakage syndrome (NBS) (n=3) and ataxia telangiectasia (AT) (n=4) as well as eight previously unreported patients with iVDRV-induced cutaneous granulomas and DNA repair disorders including NBS (n=1), AT (n=5), DNA ligase 4 deficiency (n=1), and Artemis deficiency (n=1). We also provide descriptive data on several previously unreported PID patients with iVDRV-induced cutaneous granulomas including cartilage hair hypoplasia (n=1), warts, hypogammaglobulinemia, immunodeficiency, myelokathexis (WHIM) syndrome (n=1), MHC class II deficiency (n=1), Coronin-1A deficiency (n=1), X-linked severe combined immunodeficiency (X-SCID) (n=1), and combined immunodeficiency without a molecular diagnosis (n=1). At the time of this report, the median age of the patients with skin granulomas and DNA repair disorders was 9years (range 3-18). Cutaneous granulomas have been documented in all, while visceral granulomas were observed in six cases (40%). All patients had received rubella virus vaccine. The median duration of time elapsed from vaccination to the development of cutaneous granulomas was 48months (range 2-152). Hematopoietic cell transplantation was reported to result in scarring resolution of cutaneous granulomas in two patients with NBS, one patient with AT, one patient with Artemis deficiency, one patient with DNA Ligase 4 deficiency, one patient with MHC class II deficiency, and one patient with combined immunodeficiency without a known molecular etiology. Of the previously reported and unreported cases, the majority share the diagnosis of a DNA repair disorder. Analysis of additional patients with this complication may clarify determinants of rubella pathogenesis, identify specific immune defects resulting in chronic infection, and may lead to defect-specific therapies. en
dc.format.extent 9
dc.language.iso eng
dc.relation.ispartof Journal of Clinical Immunology
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject DNA ligase 4 deficiency
dc.subject ataxia telangiectasia
dc.subject Nijmegen breakage syndrome
dc.subject Artemis deficiency
dc.subject combined immunodeficiency
dc.subject chronic rubella infection resulting in cutaneous granuloma formation
dc.subject MUTATIONS
dc.subject 3121 General medicine, internal medicine and other clinical medicine
dc.title Rubella Virus-Associated Cutaneous Granulomatous Disease : a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders en
dc.type Article
dc.contributor.organization Children's Hospital
dc.contributor.organization Clinicum
dc.contributor.organization HUS Children and Adolescents
dc.description.reviewstatus Peer reviewed
dc.relation.issn 0271-9142
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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