Results 41 to 50 of about 27,529 (230)

Protein misfolding and dysregulated protein homeostasis in autoinflammatory diseases and beyond. [PDF]

, 2015
Cells have a number of mechanisms to maintain protein homeostasis, including proteasome-mediated degradation of ubiquitinated proteins and autophagy, a regulated process of ‘self-eating’ where the contents of entire organelles can be recycled for other ...
A Halle, A Kaser, A Kitamura, A Simon, AA Lobito, AB Singleton, AC Bulua, AK Agarwal, AM Cuervo, Amma F. Agyemang, AR Simard, AR Winslow, AV Matveyenko, B Levine, B Nedjai, B Neerinckx, B Shi, B Wang, C Dode, C Hetz, C Koumenis, C Pintado, CC Ferrari, CG Brook, CM Ethen, CM Larsen, CS Mendes, CS Shi, D Blum-Degen, D Narendra, DG McGonagle, DH Anderson, DS Friedman, E Hetier, ET Chouchani, F Ciccia, F Martinon, F Martinon, F Pickford, F Urano, FS Giovine Di, FS Giovine di, G Boden, H Gao, H Kroeger, H Park, H Snyder, HD Ryoo, HM Gao, HM Gao, HM Hoffman, HW Virgin, I Aksentijevich, I Aksentijevich, I Allaeys, I Mitroulis, I Todd, I Todd, J Feldmann, J Harris, J Hirosumi, J Moscat, J Wu, J Yu, JA Duncan, JA Ehses, JD Rioux, JE Ramos de Carvalho, JJ Chae, JJ Hoozemans, JJ Hoozemans, JL Webb, JP Mear, JP Sherlock, JR Vingerling, JW Crabb, JY Choe, K Arima, K Cadwell, K Nakahira, KK Chung, KS McNaught, KS McNaught, KT Uysal, L Agostini, L Cantarini, L Qin, L Salvado, L Serrano-Marco, L-p Yang, LJ Dickie, LM Ittner, LV Johnson, M Gattorno, M Komatsu, M Lu, M Martinez-Vicente, M Meyer-Luehmann, M Mogi, M Mogi, M Shimazawa, M-J Kang, MC Chartier-Harlin, MC Pott Godoy, MF Gregor, MF McDermott, MG Spillantini, MG Spillantini, MH Polymeropoulos, Michael F. McDermott, MJ Turner, MJ Turner, ML DeLay, ML Huggins, MS Gorbatyuk, N Hosogai, N Mimura, N Romberg, N Yousaf, NK Sharma, NS Dangoria, P Scott, PL McGeer, PN Hawkins, Q Qiu, Q Yao, R Burgh van der, R Goldbach-Mansky, RC Chang, RC Coll, RD Jager, Richard M. Siegel, S Itagaki, S Savic, S Savic, S Xanthoulea, SL Doyle, SL Masters, SL Masters, SL Rebelo, SM Churchman, Stephanie R. Harrison, SW Canna, T Bachetti, T Bachetti, T Hara, T Ryhänen, T Saitoh, T Strowig, T Yoshizaki, T Yoshizaki, The Eye Diseases Prevalence Research, G, U Ozcan, U Ozcan, U Seifert, VT Samuel, W Pan, X Zhang, Y Liu, Y Shi, Y Zhong, Y-H Youm, ZV Wang   +162 more
core   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Isolated neurological presentations of mevalonate kinase deficiency

JIMD Reports, 2023
Mevalonate kinase (MK) deficiency is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the MVK gene with a broad phenotypic spectrum including autoinflammation, developmental delay and ataxia. Typically, neurological symptoms
Eva M. M. Hoytema van Konijnenburg, Esmeralda Oussoren, Joost Frenkel, Peter M. van Hasselt   +3 more
doaj   +1 more source

Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease

Frontiers in Immunology, 2021
The immune response to viral infection involves the recognition of pathogen-derived nucleic acids by intracellular sensors, leading to type I interferon (IFN), and downstream IFN-stimulated gene, induction.
Alice Lepelley, Timothy Wai, Yanick J. Crow, Yanick J. Crow   +3 more
doaj   +1 more source

Pathogenesis of Psoriasis: Focus on Autoinflammation [PDF]

Dermatopathology, 2018
Psoriasis is a common, immune-mediated, inflammatory disease mainly involving the skin and joints, that is genetically determined, strongly influenced by epigenetic mechanisms, and possibly triggered by environmental factors [1, 2].
A. V. Marzano, F. Derlino, E. Berti
openaire   +4 more sources

Central nervous system manifestations of monogenic autoinflammatory disorders and the neurotropic features of SARS-CoV-2: Drawing the parallels

Frontiers in Pediatrics, 2022
Central nervous system (CNS) involvement in monogenic autoinflammatory disorders (AID) is increasingly recognized and can be life threatening. Therefore, a low threshold to consider CNS disease should be maintained in patients with systemic inflammation.
Thomas Renson, Thomas Renson, Thomas Renson, Lorraine Hamiwka, Lorraine Hamiwka, Susanne Benseler, Susanne Benseler   +6 more
doaj   +1 more source

G-CSF drives autoinflammation in APLAID

Nature Immunology, 2023
AbstractMissense mutations in PLCG2 can cause autoinflammation with phospholipase C gamma 2-associated antibody deficiency and immune dysregulation (APLAID). Here, we generated a mouse model carrying an APLAID mutation (p.Ser707Tyr) and found that inflammatory infiltrates in the skin and lungs were only partially ameliorated by removing inflammasome ...
Elisabeth Mulazzani, Klara Kong, Juan I. Aróstegui, Ashley P. Ng, Nishika Ranathunga, Waruni Abeysekera, Alexandra L. Garnham, Sze-Ling Ng, Paul J. Baker, Jacob T. Jackson, John D. Lich, Margaret L. Hibbs, Ian P. Wicks, Cynthia Louis, Seth L. Masters   +14 more
openaire   +3 more sources

Immune Deficiency and Autoinflammation, the " Yin" and " Yang" of the Immune System

罕见病研究
Inborn errors of immunity (IEI) are immune system disorders caused by genetic mutations, often presenting with varying degrees of infection, immune dysregulation, lymphoproliferation, and tumor susceptibility.
ZHOU Yu, SONG Hongmei
doaj   +1 more source

Autoinflammatory diseases: Update on classification diagnosis and management [PDF]

, 2017
The spectrum of systemic autoinflammatory disorders broadens continually. In part, this is due to the more widespread application of massive parallel sequencing, helping with novel gene discovery in this and other areas of rare diseases.
McDermott, MF, Pathak, S, Savic, S
core   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source