Dissertation/ Thesis
Cryopyrin-associated periodic syndrome: review and description of French CAPS with mosaïcism ; Les syndromes périodiques associés à la cryopyrine : revue de la littérature et description des cas français avec mosaïcisme somatique
| العنوان: | Cryopyrin-associated periodic syndrome: review and description of French CAPS with mosaïcism ; Les syndromes périodiques associés à la cryopyrine : revue de la littérature et description des cas français avec mosaïcisme somatique |
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| المؤلفون: | Kevorkian-Verguet, Charlotte |
| المساهمون: | Université Grenoble Alpes - UFR Médecine (UGA UFRM), Université Grenoble Alpes 2016-2019 (UGA 2016-2019 ), Alexandre Belot |
| المصدر: | https://dumas.ccsd.cnrs.fr/dumas-01610756 ; Médecine humaine et pathologie. 2017. |
| بيانات النشر: | CCSD |
| سنة النشر: | 2017 |
| المجموعة: | Université Grenoble Alpes: HAL |
| مصطلحات موضوعية: | NLRP3 inflammasome, Interleukin 1 inhibitors, Chronic infantile neurological cutaneous and articular syndrome, Muckle-Wells syndrome, Cryopyrin-associated periodic syndromes (CAPS), Familial cold urticaria, Mosaïcisme, Cryopyrinopathies, Urticaire familiale au froid, Syndrome Chronique Infantile Neurologique Cutané et Articulaire, Inflammasome NLRP3, Syndrome de Muckle-Wells, Anti-interleukine 1, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| الوصف: | Cryopyrin-associated periodic syndrome are three clinical forms of a rare autoinflammatory disorder from familial cold urticaria, the mild form, to the most severe form called chronic infantile neurological cutaneous and articular syndrome (CINCA), throught Muckle-Wells syndrome (MWS), the intermediate phenotype. Sensorineural hearing loss and renal amyloidosis can occur during the evolution. CAPS are due to gain-of-function mutations of NLRP3 gene, predominantly germline mutations. This results in an excessive activation of NLRP3 inflammasome and interleukin 1β processing leading to biological and clinical manifestations. These germline mutations are detectable with Sanger sequencing method. Sometimes, classically severe phenotypes of MWS and CINCA remain germline-mutation-negative patients. However, genetic diagnosis is crucial to access to interleukin 1 inhibitors that drastically improved quality of life of patients, and for genetic counselling. A finer analysis of Sanger sequence trace could suggest mosaicism, two or more populations of cells with distinct genotypes. Next-generation sequencing are recent technological advances that have provided us to assess mosaicism. In the literature, this genetic mechanism is involved in some CAPS and others auto-inflammatory diseases (MAI) physiopathology. Here, we present a CAPS review, mosaicism case reports of CAPS and MAI described in the literature and a description of french CAPS with mosaicism. ; Les cryopyrinopathies (CAPS) regroupent trois entités, continuum phénotypique depuis la forme bénigne d’urticaire familiale au froid jusqu’au syndrome Chronique Infantile, Neurologique, Cutané et Articulaire (CINCA) en passant par le phénotype intermédiaire de syndrome de Muckle-Wells (MWS). Deux complications grèvent l’évolution : la surdité et l’amylose AA, notamment rénale. Sur le plan physiopathologique, les CAPS sont la conséquence de mutations « gain de fonction », majoritairement germinales, du gène NLRP3, impliquant une activation constitutive de l’inflammasome ... |
| نوع الوثيقة: | master thesis |
| اللغة: | French |
| Relation: | PPN: 204467160 |
| الاتاحة: | https://dumas.ccsd.cnrs.fr/dumas-01610756 https://dumas.ccsd.cnrs.fr/dumas-01610756v1/document https://dumas.ccsd.cnrs.fr/dumas-01610756v1/file/2017GREA5092_kevorkian-verguet_charlotte%281%29%28D%29_version_diffusion.pdf |
| Rights: | info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.4020CA9B |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |