Academic Journal
Monogenic lupus: Dissecting heterogeneity
| العنوان: | Monogenic lupus: Dissecting heterogeneity |
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| المؤلفون: | Omarjee, Ommar, Picard, Cécile, Frachette, Cécile, Moreews, Marion, Rieux-Laucat, Frederic, Soulas-Sprauel, Pauline, Viel, Sebastien, Lega, Jean-Christophe, Bader-Meunier, Brigitte, Walzer, Thierry, Mathieu, Anne-Laure, Cimaz, Rolando, Belot, Alexandre |
| المساهمون: | Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon), Université de Lyon-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Les Hôpitaux Universitaires de Strasbourg (HUS), Université de Strasbourg (UNISTRA), Centre Hospitalier Lyon Sud CHU - HCL (CHLS), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Università degli Studi di Milano = University of Milan (UNIMI) |
| المصدر: | ISSN: 1568-9972 ; Autoimmunity Reviews ; https://hal.science/hal-03465917 ; Autoimmunity Reviews, 2019, 18 (10), ⟨10.1016/j.autrev.2019.102361⟩ ; https://doi.org/10.1016%2Fj.autrev.2019.102361. |
| بيانات النشر: | HAL CCSD Elsevier |
| سنة النشر: | 2019 |
| المجموعة: | Université Jean Monnet – Saint-Etienne: HAL |
| مصطلحات موضوعية: | Apoptosis, Complement system, Efferocytosis, Monogenic lupus, PKC-delta deficiency, Self-tolerance, Systemic lupus erythematosus, Type-I interferonopathies, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| الوصف: | Systemic lupus erythematosus (SLE) is a severe lifelong multisystem autoimmune disease characterized by the presence of autoantibodies targeting nuclear autoantigens, increased production of type I interferon and B cell abnormalities. Clinical presentation of SLE is extremely heterogeneous and different groups of disease are likely to exist. Recently, childhood-onset SLE (cSLE) cases have been linked to single gene mutations, defining the concept of monogenic or Mendelian lupus. Genes associated with Mendelian lupus can be grouped in at least three functional categories. First, complement deficiencies represent the main cause of monogenic lupus and its components are involved in the clearance of dying cells, a mechanism also called efferocytosis. Mutations in extracellular DNASE have been also identified in cSLE patients and represent additional causes leading to defective clearance of nucleic acids and apoptotic bodies. Second, the study of Aicardi-Goutières syndromes has introduced the concept of type-I interferonopathies. Bona fide lupus syndromes have been associated to this genetic condition, driven by defective nucleic acids metabolism or innate sensors overactivity. Interferon signalling anomalies can be detected and monitored during therapies, such as Janus-kinase (JAK) inhibitors. Third, tolerance breakdown can occur following genetic mutations in B and/or T cell expressing key immunoregulatory molecules. Biallelic mutations in PRKCD are associated to lupus and lymphoproliferative diseases as PKC-δ displays proapoptotic activity and is crucial to eliminate self-reactive transitional B cells. Here we review the literature of the emerging field of Mendelian lupus and discuss the physiopathological learning from these inborn errors of immunity. In addition, clinical and biological features are highlighted as well as specific therapies that have been tested in these genetic contexts. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/31401343; PUBMED: 31401343 |
| DOI: | 10.1016/j.autrev.2019.102361 |
| الاتاحة: | https://hal.science/hal-03465917 https://hal.science/hal-03465917v1/document https://hal.science/hal-03465917v1/file/S1568997219301612.pdf https://doi.org/10.1016/j.autrev.2019.102361 |
| Rights: | http://creativecommons.org/licenses/by-nc/ ; info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.6B0715C |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.autrev.2019.102361 |
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