المؤلفون: Silvia Federici, Bianca Laura Cinicola, Francesco La Torre, Riccardo Castagnoli, Vassilios Lougaris, Giuliana Giardino, Stefano Volpi, Roberta Caorsi, Lucia Leonardi, Stefania Corrente, Annarosa Soresina, Caterina Cancrini, Antonella Insalaco, Marco Gattorno, Fabrizio De Benedetti, Gian Luigi Marseglia, Michele Miraglia Del Giudice, Fabio Cardinale

المصدر: Frontiers in Pediatrics, Vol 11 (2024)

مصطلحات موضوعية: autoinflammatory diseases, DADA2, SAVI, monogenic lupus, haploinsufficiency A20, vasculopathy, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1258301/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/72787061944f423ca9c03056564a8f03

المؤلفون: M. Debeljak, S. Blazina, J. Brecelj, T. Avčin, N. Toplak

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: haploinsufficiency A20, TNFAIP3 gene, NGS genetic testing, case report, clinical presentation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1132596/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/fbf45ff9cdd4486e8655230557e97380

المؤلفون: Yu Chen, Zhenghao Ye, Liping Chen, Tingting Qin, Ursula Seidler, De'an Tian, Fang Xiao

المصدر: Frontiers in Immunology, Vol 11 (2020)

مصطلحات موضوعية: haploinsufficiency A20, autoinflammatory disorders, monogenic disease, TNFAIP3, OTU domain, ZnF domain, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2020.574992/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/f60fe48c6d0540e5b41fb4a19989acab

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المؤلفون: Fang Xiao, Ursula Seidler, Zhenghao Ye, Tingting Qin, Liping Chen, Dean Tian, Yu Chen

المصدر: Frontiers in Immunology, Vol 11 (2020)
Frontiers in Immunology

مصطلحات موضوعية: 0301 basic medicine, Male, DNA Mutational Analysis, Disease, Haploinsufficiency, medicine.disease_cause, TNFAIP3, Gastroenterology, Ovarian tumor, haploinsufficiency A20, 0302 clinical medicine, Immunology and Allergy, Age of Onset, Child, Oral Ulcer, Original Research, Mutation, clinical manifestation, Phenotype, Child, Preschool, Female, lcsh:Immunologic diseases. Allergy, medicine.medical_specialty, Heterozygote, Peptic Ulcer, Adolescent, Fever, OTU domain, Immunology, Monogenic disease, Diagnosis, Differential, 03 medical and health sciences, Predictive Value of Tests, Internal medicine, medicine, Humans, Sex organ, Genetic Predisposition to Disease, Tumor Necrosis Factor alpha-Induced Protein 3, business.industry, Hereditary Autoinflammatory Diseases, Infant, 030104 developmental biology, monogenic disease, autoinflammatory disorders, ZnF domain, business, lcsh:RC581-607, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::730a87f0eb923acf673e0127d7f5b507
https://www.frontiersin.org/article/10.3389/fimmu.2020.574992/full

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المؤلفون: A. Nau, Rozenn Le Berre, B. Rouviere, Florian Berteau, Claire de Moreuil, Isabelle Touitou, Aurélien Delluc, Guillaume Sarrabay

المساهمون: Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Lymphocyte B et Auto-immunité (LBAI), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Ottawa Hospital Research Institute [Ottawa] (OHRI), Laboratoire Universitaire de Biodiversité et Ecologie Microbienne (LUBEM), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)

المصدر: Autoimmunity Reviews
Autoimmunity Reviews, Elsevier, 2018, 17 (8), pp.809-815
Autoimmunity Reviews, Elsevier, 2018, 17 (8), pp.809-815. ⟨10.1016/j.autrev.2018.02.012⟩

مصطلحات موضوعية: 0301 basic medicine, Abdominal pain, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Immunology, Arthritis, Disease, Haploinsufficiency, Behçet disease, Digestive ulcers, 03 medical and health sciences, Interquartile range, Immunology and Allergy, Medicine, Humans, Sex organ, Genetic Predisposition to Disease, TNFAIP3, ComputingMilieux_MISCELLANEOUS, Tumor Necrosis Factor alpha-Induced Protein 3, Genes, Dominant, Erythema nodosum, business.industry, Behcet Syndrome, Auto-inflammatory disease, medicine.disease, Dermatology, 3. Good health, 030104 developmental biology, Haploinsufficiency A20, medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Systemic vasculitis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44d2987b99393168fb5de384945d1634
https://pubmed.ncbi.nlm.nih.gov/29890348

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