Rubella Virus-Associated Cutaneous Granulomatous Disease : a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
| Autor: | Philippe Pérot, Hans D. Ochs, Bénédicte Neven, David Buchbinder, Jasjit Singh, Christine Bodemer, E.V. Deripapa, Louise E. Vaz, Despina Moshous, Fabian Hauck, Kathleen E. Sullivan, Christoph Klein, Anna Shcherbina, Michael H. Albert, Shahrzad Bakhtiar, Felipe Suarez, Anita Rack, Diane J. Nugent, Francisco A. Bonilla, Marc Eloit, Alfons Krol, Ludmila Perelygina, Mikko Seppänen |
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| Přispěvatelé: | Children's Hospital, Clinicum, HUS Children and Adolescents, University of California [Irvine] (UC Irvine), University of California (UC), Children's Hospital of Orange County, Dr von Hauner Children's Hospital [Munich, Germany], Ludwig-Maximilians-Universität München (LMU), Frankfurt University Hospital, Dmitry Rogachev Federal Research and Clinical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Children’s Hospital of Philadelphia (CHOP ), Centers for Disease Control and Prevention [Atlanta] (CDC), Centers for Disease Control and Prevention, Biologie des Infections - Biology of Infection, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de Recherche et Innovation Technologique (CITECH), Institut Pasteur [Paris] (IP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Boston Children's Hospital, Oregon Health & Sciences University, Oregon Health and Science University [Portland] (OHSU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Seattle Children's Research Institute [Seattle, WA, USA], University of Washington [Seattle], We thank the patients and their families for participating in our research studies. We would also like to acknowledge the support of the U.S. Centers for Disease Control and Prevention in Atlanta, GA. Patient blood samples and biopsy material were obtained after provision of informed consent., Pérot, Philippe, University of California [Irvine] (UCI), University of California, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institut Pasteur [Paris], University of Helsinki |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine chronic rubella infection resulting in cutaneous granuloma formation DNA Repair MESH: Granuloma MESH: X-Linked Combined Immunodeficiency Diseases X-Linked Combined Immunodeficiency Diseases medicine.disease_cause MESH: Ataxia Telangiectasia MESH: Hirschsprung Disease Hypogammaglobulinemia 0302 clinical medicine [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases MESH: Child Immunology and Allergy combined immunodeficiency Child MESH: Nijmegen Breakage Syndrome Immunodeficiency Skin [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology MESH: DNA Repair Granuloma Hematopoietic Stem Cell Transplantation MESH: Rubella Rubella virus DNA ligase 4 deficiency 3. Good health Child Preschool [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases Female ataxia telangiectasia MESH: Hair medicine.medical_specialty Adolescent MESH: Immunologic Deficiency Syndromes Nijmegen breakage syndrome Primary Immunodeficiency Diseases Immunology MESH: Skin Diseases Osteochondrodysplasias Skin Diseases Rubella Article 03 medical and health sciences [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics MESH: Skin medicine Humans Hirschsprung Disease Artemis deficiency MESH: Hematopoietic Stem Cell Transplantation MESH: Adolescent Myelokathexis [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics MESH: Humans business.industry MUTATIONS MESH: Child Preschool Immunologic Deficiency Syndromes [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology MESH: Osteochondrodysplasias medicine.disease Dermatology MESH: Male Transplantation MESH: Rubella virus 030104 developmental biology 3121 General medicine internal medicine and other clinical medicine Primary immunodeficiency MESH: Primary Immunodeficiency Diseases business MESH: Female [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology Hair 030215 immunology |
| Zdroj: | Journal of Clinical Immunology Journal of Clinical Immunology, 2019, 39 (1), pp.81-89. ⟨10.1007/s10875-018-0581-0⟩ J Clin Immunol Journal of Clinical Immunology, Springer Verlag, 2019, 39 (1), pp.81-89. ⟨10.1007/s10875-018-0581-0⟩ |
| ISSN: | 0271-9142 1573-2592 |
| Popis: | International audience; 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: | OpenAIRE |
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