Results 91 to 100 of about 27,174 (202)

PAD4-generated citrullinated histones are triggers for autoinflammation in cryopyrin-associated periodic syndrome

Cryopyrin-associated periodic syndromes (CAPS) are autoinflammatory disorders caused by gain-of-function NLRP3 variants. Although NLRP3 inflammasomes mediate IL-1β secretion through Gasdermin D (GSDMD), we show that GSDMD deletion did not prevent ...
Wei Xie, Bregje Christiaenssen, Siham Baghli, Fleur Boone, Arinna Bertoni, Silke Mortelmans, Benson Ogunjimi, Marco Gattorno, My Ha, Esther Hoste, Vito Sabato, Andy Wullaert, Peter Vandenabeele, Geert van Loo   +13 more
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Case report: VEXAS as an example of autoinflammatory syndrome in pulmonology clinical practice

Frontiers in Medicine
Lung involvement is not widely recognized as a complication of auto-inflammatory diseases. We present a broad approach to diagnose a severe form of autoinflammatory syndrome in an adult male patient.
Ewa Więsik-Szewczyk, Arkadiusz Zegadło, Agnieszka Sobczyńska-Tomaszewska, Marcelina Korzeniowska, Karina Jahnz-Rózyk   +4 more
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Familial Mediterranean Fever; Recent Advances, Future Prospectives

Diagnostics
Familial Mediterranean Fever (FMF) is the prototype and most common autoinflammatory disease that is particularly frequent in populations originating from the Mediterranean basin. It is characterized by episodes of recurrent inflammation lasting 2–3 days.
Micol Romano, David Piskin, Ovgu Kul Cinar, Erdal Sag   +3 more
doaj   +1 more source

Editorial: Case reports in dermatology

Frontiers in Medicine, 2023
Andreas Recke, Takashi Hashimoto
doaj   +1 more source

Editorial: The role of neutrophils and its NETosis in autoimmunity and autoinflammation

Frontiers in Immunology, 2022
François Niyonsaba, François Niyonsaba
doaj   +1 more source

Exploring targeted therapy in retinal vasculopathy with cerebral leukoencephalopathy: a case report and review of literature

Frontiers in Immunology
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant microvascular disorder caused by C-terminal truncating mutations in TREX1 gene, which impair protein localization and lead to ...
Patricia Tato-Moreno, Patricia Tato-Moreno, Cristina Lavilla Olleros, Cristina Lavilla Olleros, Héctor Balastegui Martín, María Barrientos Guerrero, María Barrientos Guerrero, Anna Mensa-Vilaro, Anna Mensa-Vilaro, María Esther Durán-García, María Esther Durán-García, Paloma Sánchez-Mateos, Paloma Sánchez-Mateos, Elena García-Martínez, Elena García-Martínez   +14 more
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Case Report: two cases of idiopathic plasmacytic lymphadenopathy subtype of idiopathic multicentric Castleman disease with xanthelasma palpebrum from a Canadian center

Frontiers in Hematology
BackgroundIdiopathic plasmacytic lymphadenopathy is a newly recognized subtype of idiopathic multicentric Castleman disease (iMCD-IPL) and often mimics IgG4-related disease (IgG4-RD).
Andrew A. Y. Chen, Vivian T. Yin, Paula Blanco, Mark Trinder, Richard I. Crawford, Richard I. Crawford, Ryan Henrie, Stephen Parkin, Nasreen Khalil, Mollie Carruthers, Lu Zhang, Luke Y. C. Chen, Luke Y. C. Chen   +12 more
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Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency

The last decades have brought a rapid expansion of the number of primary disorders related to the polyubiquitination pathways in humans. Most of these disorders manifest with two seemingly contradictory clinical phenotypes: autoinflammation ...
Masters, Seth L, Boisson, Bertrand, Spaan, András N   +2 more
core  

Role of animal models in understanding the mechanisms of autoimmune diseases

Autoimmunity
Autoimmune diseases are diverse, necessitating a mechanistic understanding of the protracted disease process to improve diagnostic accuracy and therapeutic efficacy.
Wasif N. Khan, Grace M. Lacoume, Eric L. Greidinger   +2 more
doaj   +1 more source

Autoinflammation in patients with leukocytic CBL loss-of-heterozygosity is caused by constitutive ERK-mediated monocyte activation [PDF]

Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss-of-heterozygosity (LOH) via ...
Ogishi, Masato, Lori Buetow, Rinchai, Darawan, Jérémie Rosain, Shen-Ying Zhang, Jean-Laurent Casanova, Camille Soudée, Rice, Gillian, Erlacher , Miriam, En-Jui Cho, Li, Hailun, Francesca Conti, Isabelle André, Steicy Sobrino, Crow, Yanick J., Davide Leardini, Bessot, Boris, Candice Lainé, Jacinta Bustamante, Chantal Lagresle-Peyrou, Ma, Cindy S., Buetow, Lori, Jonathan Bohlen, André, Isabelle, Arango-Franco, Carlos A., Aiuti, Alessandro, Anne Puel, Masson, Cécile, Ma, Cindy S, Le Floc'h, Corentin, Six, Emmanuelle, Bagarić, Ivan, Barzaghi, Federica, Baccelli , Francesco, Zhang, Peng, Pasquet, Marlène, Stuart G. Tangye, Erazo-Borrás, Lucia, Masato Ogishi, Lucia Erazo-Borrás, Claire Goulvestre, Marinella Veltroni, Edoardo Muratore, Eric Delabesse, Seabra, Luis, Lagresle-Peyrou , Chantal, Taja Vatovec, Ahmed, Syed F., Crow, Yanick, Michelet, Marine, Rosain, Jérémie, Tangye, Stuart G, Albert Catala, Bole-Feysot, Christine, Ahmed, Syed F, Gillian I. Rice, Catala, Albert, Sobrino, Steicy, Christine Bole-Feysot, Yanick J. Crow, Anna-Lena Neehus, Marlène Pasquet, Berteloot, Laureline, Huang, Danny T, Francesco Baccelli, Neehus, Anna-Lena, Veltroni, Marinella, Crow, Yanick J, Corentin Le Floc’h, Luis Seabra, Cindy S. Ma, Delabesse, Eric, Le Floc’h, Corentin, Cederholm, Axel, Filippo Consonni, Yurena Aguilar de la Red, Bagarić , Ivan, Rice, Gillian I, Soudée, Camille, Zhang, Shen-ying, Tangye, Stuart G., Laetitia Largeaud, Arango-Franco, Carlos, Erlacher, Miriam, Laia Alsina, Francesca Vendemini, Béziat, Vivien, Danny T. Huang, Ivan Bagarić, Bustamante, Jacinta, Janda, Zarah, Laurent Abel, Leardini, Davide, Aguilar de la Red, Yurena, Alsina, Laia, Eleonora Gambineri, Gambineri , Eleonora, Federica Barzaghi, Peng Zhang, Conti, Francesca, Seeleuthner, Yoann, Landegren, Nils,, Consonni , Filippo, Darawan Rinchai, Ahmed, Syed, Masetti, Riccardo, Huang, Danny, Nils Landegren, Largeaud, Laetitia, Emmanuelle Six, Marine Michelet, Cécile Roullion, Vendemini, Francesca, Consonni, Filippo, Landegren, Nils, Vivien Béziat, Francesco Saettini, Laureline Berteloot, Muratore, Edoardo, Axel Cederholm, Bohlen, Jonathan, Alessandro Aiuti, Tom Le Voyer, Boris Bessot, Miriam Erlacher, Arango-Franco, Carlos A, Saettini, Francesco, Cho, En-Jui, Ma, Cindy, Yoann Seeleuthner, Tangye, Stuart, Cederholm, Axel,, Hailun Li, Le Voyer, Tom, Goulvestre, Claire, Puel, Anne, Baccelli, Francesco, Rice, Gillian I., Riccardo Masetti, Zarah Janda, Lainé, Candice, Vatovec, Taja, Syed F. Ahmed, Abel, Laurent, Casanova, Jean-Laurent, Cécile Masson, Roullion, Cécile, Lagresle-Peyrou, Chantal, Huang, Danny T., Gambineri, Eleonora, Carlos A. Arango-Franco   +150 more
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