Results 41 to 50 of about 157,940 (239)

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  

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report

Pediatric Rheumatology Online Journal, 2017
Background Pediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia from anomalies of NOD2 gene. The product of this gene is Nod2 protein, taking part
Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol-Pokora, Anna Urbańczyk, Elżbieta Grześk, Wojciech Młynarski, Sylwia Kołtan   +6 more
doaj   +1 more source

Autoinflammatory diseases: a possible cause of thrombosis? [PDF]

, 2015
Autoinflammatory diseases are a group of disorders due to acquired or hereditary disfunction of innate immune system and characterized by systemic or localized manifestations. The prototype is Familial Mediterranean Fever, a monogenic hereditary disorder,
Francesco Orlandini, Micaela La Regina, Raffaele Manna   +2 more
core   +2 more sources

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1 beta inhibition [PDF]

, 2006
BACKGROUND:Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation.
Adams, BS, Aksentijevich, I, Beitz, LO, Brewer, C, Butman, JA, Canna, SW, Cole, JL, Dailey, NJ, Fuhlbrigge, RC, Gardner, G, Gelabert, A, Goldbach-Mansky, R, Hannan, WP, Haverkamp, MH, Hawkins, PN, Hill, S, Hoffmann, SC, Holland, SM, Horn, W, Jarvis, JN, Jones, J, Karp, BI, Kastner, DL, Kim, HJ, Moore, TL, O'Neil, K, Paul, SM, Penzak, SR, Pham, TH, Pucino, F, Rubin, BI, Shaham, B, Snyder, C, Stein, L, Turner, ML, Vehe, RK, Warren, RW, Wesley, RA, Wiggs, E, Zalewski, C   +39 more
core  

NALP1 in vitiligo-associated multiple autoimmune disease. [PDF]

, 2007
BACKGROUND: Autoimmune and autoinflammatory diseases involve interactions between genetic risk factors and environmental triggers. We searched for a gene on chromosome 17p13 that contributes to a group of epidemiologically associated autoimmune and ...
Bennett, DC, Fain, PR, Gowan, K, Jin, Y, LaBerge, G, Mailloux, CM, Riccardi, SL, Spritz, RA   +7 more
core   +1 more source

Meningovascular Inflammation in Cerebral Amyloid Angiopathy‐Related Cortical Superficial Siderosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The role of inflammation in cortical superficial siderosis (cSS), a marker of cerebral amyloid angiopathy (CAA) linked to high hemorrhage risk, is unclear. We examined 15 patients with cSS using 3 T post‐contrast vessel wall MRI (VWI) and CSF analysis.
Philipp Arndt, Eya Khadhraoui, Sebastian J. Müller, Katja Neumann, Hendrik Mattern, Sven G. Meuth, Valentina Perosa, Andreas Charidimou, Stefanie Schreiber   +8 more
wiley   +1 more source

Autoinflammatory disease syndrome of hyperimmunoglobulinemia D

Медицинский вестник Юга России, 2022
Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
doaj   +1 more source

Anti-IL1 in patients with low penetrance mutations for autoinflammatory diseases: tuscany and sicilian case series from paediatric to adult age [PDF]

, 2017
Patients with low penetrance mutations for Autoinflammatory syndromes (AID) can have severe clinical manifestations, which require to be treated with biological drugs anti-IL-1.
Giovanni Corsello, Luca Cantarini, Maria Cristina Maggio, Rolando Cimaz, Umberto Corpora   +4 more
core  

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

Performance Characteristics of Anti–Collagen II Antibodies in Relapsing Polychondritis and Related Diseases: Prospective Analysis, Systematic Review, and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective Relapsing polychondritis (RP) is a rare disease defined by recurrent cartilaginous inflammation. Anti–collagen II (Col2) antibodies have been proposed as a diagnostic biomarker for RP, but their performance characteristics are not well defined.
Karyssa Stonick, Marcela A. Ferrada, Alice Fike, Kaitlin A. Quinn, Benjamin A. Turturice, Casey Stein, Peter C Grayson   +6 more
wiley   +1 more source