Zobrazeno 1 - 10
of 498
pro vyhledávání: '"Autoinflammatory Disorders"'
Publikováno v:
European Journal of Medical Research, Vol 29, Iss 1, Pp 1-7 (2024)
Abstract Background Lichen planus (LP) is a chronic inflammatory disease with uncertain etiology. Interleukin-18 (IL-18) is an interferon gamma (INFγ) inducing agent. It is a pro-inflammatory cytokine that was found to play a role in the pathogenesi
Externí odkaz:
https://doaj.org/article/af635ebf559e4a18b3234bf7e05c4ddb
Autor:
Giorgio Costagliola, Sofia D’Elios, Susanna Cappelli, Francesco Massei, Giulia Maestrini, Alessandra Beni, Diego Peroni, Rita Consolini
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Chronic infantile neurological cutaneous articular (CINCA) syndrome is an autoinflammatory disease encompassed in the group of cryopyrin-associated periodic syndromes (CAPS). Patients suffering from CINCA have an elevated risk of developing chronic s
Externí odkaz:
https://doaj.org/article/9254d054f7e54bc8949c4d7b6fed2863
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
ObjectiveBi-allelic pathogenic variants in the MVK gene, which encodes mevalonate kinase (MK), an essential enzyme in isoprenoid biosynthesis, cause the autoinflammatory metabolic disorder mevalonate kinase deficiency (MKD). We generated and characte
Externí odkaz:
https://doaj.org/article/d7dbf338f78b42f79c1c5a5f27834b04
Autor:
Ekaterina Alexeeva, Meiri Shingarova, Tatyana Dvoryakovskaya, Olga Lomakina, Anna Fetisova, Ksenia Isaeva, Aleksandra Chomakhidze, Kristina Chibisova, Elizaveta Krekhova, Aleksandra Kozodaeva, Kirill Savostyanov, Aleksandr Pushkov, Ilya Zhanin, Dmitry Demyanov, Evgeny Suspitsin, Konstantin Belozerov, Mikhail Kostik
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
IntroductionThe blockade of interleukine-1 (anakinra and canakinumab) is a well-known highly effective tool for monogenic autoinflammatory diseases (AIDs), such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndr
Externí odkaz:
https://doaj.org/article/b0e0ad237f644108b0648b777ae917f4
Publikováno v:
Allergology International, Vol 72, Iss 3, Pp 385-393 (2023)
Cryopyrin-associated periodic syndromes (CAPS) and Schnitzler syndrome (SchS) are autoinflammatory diseases that present with urticaria-like rashes. CAPS is characterized by periodic or persistent systemic inflammation caused by the dysfunction of th
Externí odkaz:
https://doaj.org/article/6a2159e259004afb80a0f46f6b31c4f2
Autor:
Karin Rydenman, Carina Sparud-Lundin, Anna Karlsson-Bengtsson, Stefan Berg, Anders Fasth, Per Wekell
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Background Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is an autoinflammatory disorder that primarily affects young children, and typically gives rise to fever episodes that recur monthly for sever
Externí odkaz:
https://doaj.org/article/e68700f518584894accf6c40d1d47be7
Autor:
Riko Takimoto-Ito, Naotomo Kambe, Toshiaki Kogame, Takashi Nomura, Kazushi Izawa, Tomoyasu Jo, Yasuhiro Kazuma, Hajime Yoshifuji, Yuya Tabuchi, Hiroyasu Abe, Mayuko Yamamoto, Kimiko Nakajima, Ozumi Tomita, Yosuke Yagi, Kazumoto Katagiri, Yuki Matsuzaka, Yohei Takeuchi, Miho Hatanaka, Takuro Kanekura, Sora Takeuchi, Takafumi Kadono, Yuya Fujita, Kiyoshi Migita, Takahiro Fujino, Takahiko Akagi, Tomoyuki Mukai, Tohru Nagano, Mitsuhiro Kawano, Hayato Kimura, Yukari Okubo, Akimichi Morita, Michihiro Hide, Takahiro Satoh, Akihiko Asahina, Nobuo Kanazawa, Kenji Kabashima
Publikováno v:
Allergology International, Vol 72, Iss 2, Pp 297-305 (2023)
Background: Schnitzler syndrome is a rare disorder with chronic urticaria, and there is no report summarizing the current status in Japan. Methods: A nationwide survey of major dermatology departments in Japan was conducted in 2019. We further perfor
Externí odkaz:
https://doaj.org/article/1bff97464e6d4ad49cae826f877c0cf6
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/54bcbcb7c0884214a12fdbf6ac67f6c2
Autor:
Willem Maassen, Geertje Legger, Ovgu Kul Cinar, Paul van Daele, Marco Gattorno, Brigitte Bader-Meunier, Carine Wouters, Tracy Briggs, Lennart Johansson, Joeri van der Velde, Morris Swertz, Ebun Omoyinmi, Esther Hoppenreijs, Alexandre Belot, Despina Eleftheriou, Roberta Caorsi, Florence Aeschlimann, Guilaine Boursier, Paul Brogan, Matthias Haimel, Marielle van Gijn
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionAccurate and standardized phenotypic descriptions are essential in diagnosing rare diseases and discovering new diseases, and the Human Phenotype Ontology (HPO) system was developed to provide a rich collection of hierarchical phenotypic
Externí odkaz:
https://doaj.org/article/76942faa247e4c1ba731534148725544
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