Results 41 to 50 of about 24,725 (157)
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 morewiley +1 more sourceThe GAIN Registry - a new prospective study for patients with multi-organ autoimmunity and autoinflammation
, 2023 Patient registries are a very important and essential tool for investigating rare diseases, as most physicians only see a limited number of cases during their career.Grimbacher, Bodo, Caballero-Otezya, Andrés, Warnatz, Klaus, Rusch, Stephan, Krausz, Máté, Kindle, Gerhard, El-Helou, Sabine M., Ehl, Stephan, Nieters, Alexandra, Staus, Paulina Ines, Müller, Gabriele +10 morecore +2 more sourcesThe International Guideline for the Definition, Classification, Diagnosis and Management of Urticaria
Allergy, EarlyView.ABSTRACT
This update and revision of the international guideline for urticaria was developed in accordance with the methods recommended by Cochrane and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group. It is an initiative of the Global Allergy and Asthma Excellence Network (GA2LEN) and its Urticaria and ...T. Zuberbier, Z. Abdul Hameed Ansari, A. H. Abdul Latiff, M. M. Abuzakouk, M. S. Agcaoili‐De Jesus, R. C. Agondi, M. Al‐Ahmad, A. A. Alangari, H. Alhameli, C. D. Alonso Bello, S. Alshareef, S. Al‐Tamemi, S. Altrichter, H. Al Wahshi, S. Aquilina, M. Araújo, R. Arnaout, R. Asero, B. Ballmer‐Weber, C. Bangert, A. Bauer, M. Ben‐Shoshan, J. A. Bernstein, C. Bindslev‐Jensen, M. Bizjak, I. Boccon‐Gibod, H. Bonnekoh, L. Bouillet, K. Brockow, Z. Brzoza, M. Bulatović Ćalasan, A. Bulkhi, T. Buttgereit, A. Bygum, T. Caballero, O. Calderon, R. Campos, M. Cancian, E. Carne, M. A. Castor, I. Cerecedo, T. Çetinarslan, I. Cherrez‐Ojeda, N. Chkhikvadze, H. J. Chong‐Neto, K. Choo, G. Christoff, C.‐Y. Chu, K. Ciupka, N. Conlon, C. Costa, T. Craig, P. Criado, I. Danilycheva, R. Darlenski, E. De Arruda Chaves, L. de Montjoye, M. S. Doutre, A. Du‐Thanh, D. Ebo, S. Elkhalifa, S. Elmariah, T. El‐Shanawany, L. F. Ensina, R. Ertaş, R. Fachini Jardim Criado, M. Ferrer, S. Ferrucci, J. S. Fok, D. Fomina, L. Fonacier, G. Fouda, I. Francescantonio, A. Fukunaga, C. A. Galvan Calle, E. Garcia, K. Gáspár, A. Gelincik, S. Geng, K. Godse, M. Gonçalo, M. Gotua, C. Grattan, M. Grosber, G. Guidos Fogelbach, M. Guilarte, R. Guillod, E. Hamelmann, J. Hawkes, K. Hayama, R. Heuer, M. Hide, W. Hoetzenecker, N. Inomata, H.‐R. Kang, A. Kaplan, A. Kapp, M. Karam, A. Kasperska‐Zajac, C. H. Katelaris, A. Kessel, M. Khoshkhui, B. Kim, T. Kinaciyan, E. Kocatürk, M. Kolacinska‐Flont, P. Kolkhir, G. N. Konstantinou, M. Kosnik, D. Krasowska, K. Kulthanan, M. S. Kumaran, I. Kuprys‐Lipinska, M. Labrador, J. I. Larco, D. Larenas‐Linnemann, E. Latysheva, E. Lazaridou, P. H. Li, H. Lima, U. Lippert, M. Magerl, M. Makris, J. Alves Marcelino, A. V. Marzano, I. Medina, R. Meshkova, D. Micallef, R. Mohammed Ali, C. G. Mortz, M. Munoz, H. N. G. Oude Elberink, A. Nakonechna, I. Nasr, A. Nast, E. Netchiporouk, E. Nettis, S. Nieto, I. Ogueta Canales, T.‐L. Okas, R. L. Orfali, E. Özkaya, C. Parisi, A. Pennitz, R. Pawankar, M. P. Pereira, J. Peter, E. Petkova, P. D. Pigatto, I. Podder, T. Popov, G. Porebski, P. Pyatilova, G. D. Ramon, H. A. Ratti Sisa, M. Recto, K. Ress, K. Ridge, M. Riedl, C. Ritchie, N. Rosario Filho, I. Rosmaninho, M. Rudenko, M. Rukhadze, K. Rutkowski, V. Sabato, U. M. Sahiner, S. Saini, F. Saleh Al Sabbagh, A. Salman, F. Salvo, J. Sanchez, A. Santucci, S. Schliemann, P. Schmid‐Grendelmeier, B. E. Sekerel, F. Serpa, F. Sheikh, J. Sheikh, H. Shendi, F. Siebenhaar, M. Sonomjamts, A. Soria, B. Sousa Pinto, M. Staevska, P. Staubach, M. Stephan, K. Stevanovic, L. Stingeni, M. Stobiecki, Ö. Su Küçük, G. Sussman, A. Szegedi, S. Takahagi, A. Tanaka, N. Teovska Mitrevska, S. F. Thomsen, E. Toubi, F. Tsatsou, M. Turk, Z. Vadasz, A. Valerieva, S. Valle, M. v. Doorn, B. Veleiro Perez, C. E. Vera Ayala, C. Vestergaard, R. J. Vieira, C. W. Maruta, B. Wedi, R. N. Werner, E. W. Y. Yap, P. Xepapadaki, Y. Xiang, Y.‐M. Ye, P. Yong, G. Yosipovitch, A. Z. J. Zalewska‐Janowska, C. Zeyen, Z. Zhao, M. Metz, A. M. Giménez‐Arnau +221 morewiley +1 more sourceUnderstanding Human Autoimmunity and Autoinflammation Through Transcriptomics.
, 2017 Transcriptomics, the high-throughput characterization of RNAs, has been instrumental in defining pathogenic signatures in human autoimmunity and autoinflammation.Alma-Martina Cepika, Cepika, Alma-Martina, Banchereau, Romain, Romain Banchereau, Banchereau, Jacques, Pascual, Virginia, Jacques Banchereau, Virginia Pascual +7 morecore +1 more sourceHuman TBK1 Deficiency Leads to Autoinflammation Driven by TNF-Induced Cell Death
, 2021 TANK binding kinase 1 (TBK1) regulates IFN-I, NF-κB, and TNF-induced RIPK1-dependent cell death (RCD). In mice, biallelic loss of TBK1 is embryonically lethal.Gruber, Conor, Sancho-Shimizu, Vanessa, Aksentijevich, Ivona, Mancini, Grazia M S, Malle, Louise, Chavan, Pallavi Pimpale, Chan, Mark, Hollink, Iris H.I.M., Sabli, Ira K.D., Hollink, Iris H. I. M., Patel, Roosheel, Bogunovic, Dusan, Mancini, Grazia M. S., Taft, Justin, van Laar, Jan A.M., Özen, Seza, Cüceoğlu, Müşerref Kasap, Kastner, Daniel, Hollink, Iris H I M, Markson, Michael, Wokke, Beatrijs H A, Sabli, Ira K D, Khubchandani, Raju, van Laar, Jan A. M., Martín-Fernández, Marta, Van Laar, Jan A M, Wokke, Beatrijs H.A., Mancini, Grazia M.S., Kastner, Daniel L., Legarda, Diana, Cüceoğlu, Müşerref, Sabli, Ira K. D., Richardson, Ashley, van Pelt, Philomine, Kastner, Daniel L, Buta, Sofija, Schnappauf, Oskar, Wokke, Beatrijs H. A., Ting, Adrian T., Ting, Adrian T +39 morecore +1 more sourceSelective IL‐23 Inhibition in Conventional Treatment‐Refractory Pyoderma Gangrenosum: A Multicenter, Retrospective Study
International Journal of Dermatology, EarlyView.The clinical effects of selective IL‐23 inhibition in refractory pyoderma gangrenosum, highlighting progressive ulcer healing, reduction in inflammation and pain, and steroid‐sparing effect, supporting the role of the IL‐23/Th17 axis as a therapeutic target.Luca Bettolini, Carlo Alberto Maronese, Federica Derlino, Giovanni Genovese, Chiara Moltrasio, Luisa Sarno, Stefano Buffon, Bianca Cei, Giammarco Granieri, Valentina Dini, Marco Romanelli, Vincenzo Maione, Stefano Bighetti, Marina Venturini, Edoardo Cammarata, Paola Savoia, Antonio Di Guardo, Luigi Gargiulo, Ruggero Cascio Ingurgio, Antonio Costanzo, Lorenza Burzi, Claudia Leporati, Nunzia Di Cristo, Nicola Zerbinati, Alex G. Ortega‐Loayza, Angelo Valerio Marzano +25 morewiley +1 more sourceNEMO‐NDAS: Case Report and Review of the Literature
Pediatric Dermatology, EarlyView.ABSTRACT
NEMO‐deleted exon 5 autoinflammatory syndrome (NEMO‐NDAS) is the result of a gain‐of‐function IKBKG pathogenic variant leading to dysregulated NF‐κB signaling and systemic inflammation. We present a case of NEMO‐NDAS in a 2‐year‐old female presenting with recurrent fevers, subcutaneous nodules, lymphadenopathy, and splenomegaly.Angela Yang, Kristie Mar, Kimberly A. Morishita, Kevin Meesters, Antonio Torrelo, Joseph M. Lam +5 morewiley +1 more sourceLUBAC deficiency perturbs TLR3 signaling to cause immunodeficiency and autoinflammation [PDF]
, 2016 The linear ubiquitin chain assembly complex (LUBAC), consisting of SHANK-associated RH-domain–interacting protein (SHARPIN), heme-oxidized IRP2 ubiquitin ligase-1 (HOIL-1), and HOIL-1–interacting protein (HOIP), is a critical regulator of inflammation ...Torsten Hartwig, Rieser, E, Endres, C, Peltzer, N, Lucia Taraborrelli, Johannes Lemke, Darding, M, Lemke, J, Draber, P, Ren, H, Taraborrelli, L, Cornelia Endres, Michael Bergmann, Ferguson, BJ, Peter Draber, Brian J. Ferguson, Balazs Dome, Nieves Peltzer, Kovacs, I, Dome, B, Zinngrebe, J, Maurice Darding, Henning Walczak, Hartwig, T, Walczak, H, Julia Zinngrebe, Eva Rieser, Hongwei Ren, Silvia von Karstedt, von Karstedt, S, Ildikó Kovács, Bergmann, M +31 morecore +1 more sourcePerception of self: Distinguishing autoimmunity from autoinflammation
, 2015 Rheumatic diseases can be divided in two groups, autoinflammatory and autoimmune disorders. The clinical presentation of both types of diseases overlap, but the pathological pathways underlying rheumatic autoinflammation and autoimmunity are distinct and Emmerik F. A. Leijten, Marianne Boes, Van Kempen, Tessa S., Wenink, Mark H., Timothy R. D. J. Radstake, Boes, Marianne, Tessa S. van Kempen, Leijten, Emmerik F A, Radstake, Timothy R D J, Mark H. Wenink +9 morecore +1 more source
