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

Autor: Buchbinder D; Department of Pediatric Hematology, Children's Hospital of Orange County, 1201 W. La Veta Avenue, Orange, CA, 92868, USA. dbuchbinder@choc.org.; Department of Pediatrics, University of California at Irvine, Orange, CA, USA. dbuchbinder@choc.org., Hauck F; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU, Munich, Germany., Albert MH; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU, Munich, Germany., Rack A; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU, Munich, Germany., Bakhtiar S; Division for Pediatric Stem Cell Transplantation and Immunology, University Hospital Frankfurt, Frankfurt/Main, Germany., Shcherbina A; Department of Immunology, Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Deripapa E; Department of Immunology, Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Sullivan KE; Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Perelygina L; Division of Viral Diseases, Centers for Disease Control and Prevention, Atlanta, GA, USA., Eloit M; Biology of Infection Unit, Pathogen Discovery Laboratory, Institut Pasteur, Paris, France., Neven B; Unité d'Immunologie-Hématologie et Rhumatologie Pédiatriques, Hôpital Necker-Enfants-Malades, AP-HP, Paris, France.; INSERM U116 and Institut Imagine, Université Paris-Descartes, Sorbonne Paris Cité, Paris, France., Pérot P; Biology of Infection Unit, Pathogen Discovery Laboratory, Institut Pasteur, Paris, France.; Centre d'innovation et de Recherche Technologique (Citech), Institut Pasteur, Paris, France., Moshous D; Unité d'Immunologie-Hématologie et Rhumatologie Pédiatriques, Hôpital Necker-Enfants-Malades, AP-HP, Paris, France.; INSERM U116 and Institut Imagine, Université Paris-Descartes, Sorbonne Paris Cité, Paris, France., Suarez F; Unité d'hématologie adulte, Hopital Necker-Enfants-Malades, AP-HP, INSERM U116 & Institut Imagine, Université Paris-Descartes, Sorbonne Paris Cité, Paris, France., Bodemer C; Service de dermatologie pédiatrique, Hopital Necker-Enfants-Malades, AP-HP, INSERM U116 & Institut Imagine, Université Paris-Descartes, Sorbonne Paris Cité, Paris, France., Bonilla FA; Boston Children's Hospital, Boston, MA, USA., Vaz LE; Department of Infectious Disease, Doernbecher Children's Hospital, Oregon Health Sciences University, Portland, OR, USA., Krol AL; Department of Dermatology, Doernbecher Children's Hospital, Oregon Health Sciences University, Portland, OR, USA., Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU, Munich, Germany., Seppanen M; Rare Disease Center, Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland., Nugent DJ; Department of Pediatric Hematology, Children's Hospital of Orange County, 1201 W. La Veta Avenue, Orange, CA, 92868, USA.; Department of Pediatrics, University of California at Irvine, Orange, CA, USA., Singh J; Department of Pediatrics, University of California at Irvine, Orange, CA, USA.; Department of Infectious Disease, Children's Hospital of Orange County, Orange, CA, USA., Ochs HD; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Jazyk: angličtina
Zdroj: Journal of clinical immunology [J Clin Immunol] 2019 Jan; Vol. 39 (1), pp. 81-89. Date of Electronic Publication: 2019 Jan 03.
DOI: 10.1007/s10875-018-0581-0
Abstrakt: 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 9 years (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 48 months (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.
Databáze: MEDLINE
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