Results 31 to 40 of about 24,725 (157)

A purine metabolic checkpoint that prevents autoimmunity and autoinflammation.

, 2021
Still's disease, the paradigm of autoinflammation-cum-autoimmunity, predisposes for a cytokine storm with excessive T lymphocyte activation upon viral infection. Loss of function of the purine nucleoside enzyme FAMIN is the sole known cause for monogenic

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G-CSF drives autoinflammation in APLAID

, 2023
Missense 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 ...
Abeysekera, W, Juan I. Aróstegui, Ashley P. Ng, Jackson, JT, Cynthia Louis, Wicks, IP, Jacob T. Jackson, Masters, SL, Alexandra L. Garnham, Mulazzani, E, Waruni Abeysekera, Kong, K, Baker, PJ, Garnham, AL, Louis, C, Nishika Ranathunga, Paul J. Baker, Hibbs, ML, Ng, AP, Klara Kong, Sze-Ling Ng, Margaret L. Hibbs, Ranathunga, N, Elisabeth Mulazzani, Lich, JD, John D. Lich, Seth L. Masters, Aróstegui, JI, Ian P. Wicks, Ng, SL   +29 more
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A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours [PDF]

, 2022
There is an important unmet clinical need for fast turnaround next generation sequencing (NGS) to aid genetic diagnosis of patients with acute and sometimes catastrophic inflammatory presentations.
Price-Kuehne, F, Hong, Ying, Burleigh, A, McCreary, Dara, Gilmour, K, Jensen, Barbara, Brogan, P, Hong, Y, Omoyinmi, E, Jensen, B, McCreary, D, Price-Kuehne, Fiona, Burleigh, Alice, Brogan, Paul, Eleftheriou, D, Gilmour, Kimberly, Omoyinmi, Ebun, Eleftheriou, Despina   +17 more
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The Conundrum of Psoriatic Arthritis: a Pathogenetic and Clinical Pattern at the Midpoint of Autoinflammation and Autoimmunity

, 2022
Psoriatic arthritis (PsA) is a chronic inflammatory condition characterized by psoriasis, synovitis, enthesitis, spondylitis, and the possible association with other extra-articular manifestations and comorbidities.
Carriero, Antonio, Ennio Lubrano, Perrotta, Fabio Massimo, Vecellio, Matteo, Rossana Scrivo, Matteo Vecellio, Salvatore D’Angelo, Castellani, Chiara, Lubrano, Ennio, Fabio Massimo Perrotta, Conti, Fabrizio, Selmi, Carlo, Chiara Castellani, Fabrizio Conti, Antonio Carriero, D'Angelo, Salvatore, Carlo Selmi, Scrivo, Rossana   +17 more
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Immunological Aspects of Pure Autoinflammation versus Pure Autoimmunity

, 2016
Immunological Aspects of Pure Autoinflammation versus Pure ...
Dennis McGonagle (8522), Michael F McDermott (275451)   +1 more
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C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib

, 2023
C-terminal variants in CDC42 encoding cell division control protein 42 homolog underlie neonatal-onset cytopenia, autoinflammation, rash, and hemophagocytic lymphohistiocytosis (NOCARH).
Meino Rohlfs, Lucas, Nadja, Peters, Anke, Stephan Ehl, Bertrand Isidor, Zillinger, Thomas, Brigitte Strahm, Conrad, Solène, Klein, Christoph, Speckmann, Carsten, Schmitt-Graeff, Annette, Beckmann, Cora C.A., Sylvaine Poignant, Schubert, Mario, Shovamayee Maharana, Bahram, Seiamak, Min Ae Lee-Kirsch, Guan, Kaomei, Poignant, Sylvaine, Kaomei Guan, Kapp, Friedrich G., Günther, Claudia, Carsten Speckmann, Beckmann, Cora C. A., Charlotte M. Niemeyer, Solène Conrad, Wäsch, Lena, Mario Schubert, Kisaarslan, AYŞENUR, Rohlfs, Meino, Anne Molitor, Niemeyer, Charlotte M, Kretschmer, Stefanie, Anke Peters, Kisaarslan, Ayşenur Paç, Ayşenur Paç Kisaarslan, Lee-Kirsch, Min Ae, Hauck, Fabian, Ehl, Stephan, Ayami Yoshimi, Carapito, Raphaël, Friedrich G. Kapp, Stefanie Kretschmer, Martin Zenker, Driever, Wolfgang, Christoph Klein, Seiamak Bahram, Isidor, Bertrand, Denny Schanze, Claudia Günther, Cora C.A. Beckmann, Ekrem Unal, Molitor, Anne, Raphaël Carapito, Nadja Lucas, Thomas Zillinger, Strahm, Brigitte, Niemeyer, Charlotte M., Kapp, Friedrich G, Unal, Ekrem, Lena Wäsch, Yoshimi, Ayami, Schanze, Denny, Zenker, Martin, Fabian Hauck, Maharana, Shovamayee, Annette Schmitt-Graeff, Wolfgang Driever   +67 more
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Autoinflammation and immunodeficiency [PDF]

Pediatric Rheumatology, 2014
Autoinflammatory diseases are characterized by more or less spontaneous inflammation without inciting infection or autoimmunity. These can be either acquired or genetically determined. The latter –hereditary– autoinflammatory syndromes have been classified by some as primary immunodeficiencies: defects affecting the control of the innate arm of the ...
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Nlrp3 inflammasome activation in macrophages suffices for inducing autoinflammation in mice

, 2022
: Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of autoinflammatory disorders caused by gain-of-function NLRP3 mutant proteins that form hyperactive inflammasomes leading to overproduction of the pro-inflammatory cytokines IL-1 beta and ...
Silvia Ribo, Frising, Ulrika C., Frising, Ulrika, Bernard Malissen, Ribo, Silvia, Wullaert, Andy, Malissen, Bernard, van Loo, Geert, Ribó Gené, Silvia, Ulrika C Frising, Doglio, Maria Giulia, Doglio, M Giulia, Doglio, M. Giulia, M Giulia Doglio, Andy Wullaert, Geert van Loo   +15 more
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Genetic and Cellular Basis for Autoimmunity and Autoinflammation

, 2016
Genetic and Cellular Basis for Autoimmunity and ...
Dennis McGonagle (8522), Michael F McDermott (275451)   +1 more
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Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect

, 2020
Introduction: H Syndrome is an autosomal recessive (AR) disease caused by defects in SLCA29A3 gene. This gene encodes the equilibrative nucleoside transporter, the protein which is highly expressed in spleen, lymph node and bone marrow.
Akkaya-Ulum, Yeliz Z., Cagdas, Deniz, Balci-Peynircioglu, Banu, ÖZGÜL, RIZA KÖKSAL, ÇAĞDAŞ AYVAZ, DENİZ NAZİRE, Aytac, Selin, Balci-Hayta, Burcu, Aydinoglu, Ayse Tulay, Aydınoğlu, Ayşe Tülay, GÜMRÜK, FATMA, Gürsel, Mayda, ÖZEN, SEZA, Aytac, ŞEVKİYE SELİN, AKKAYA ULUM, ZÜLFİYE YELİZ, Cagdas, DENİZ NAZİRE, Surucu, Naz, KAYAOĞLU, BAŞAK, TAN, ÇAĞMAN, Tezcan, Ilhan   +18 more
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