Results 61 to 70 of about 27,529 (230)

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actinregulatory gene WDR1 [PDF]

, 2017
The importance of actin dynamics in the activation of the inflammasome is becoming increasingly apparent. IL-1β, which is activated by the inflammasome, is known to be central to the pathogenesis of many monogenic autoinflammatory diseases.
Anderson, G, Blundell, MP, Brogan, PA, Eleftheriou, D, Gilmour, KC, Gomes, SM, Hong, Y, Jones, H, Klein, N, Kleta, R, Malinova, D, Medlar, A, Moulding, D, Nanthapisal, S, Nowak, K, Omoyinmi, E, Record, J, Standing, ASI, Stanescu, H, Thrasher, AJ   +19 more
core   +2 more sources

Selective 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 more
wiley   +1 more source

ENaC-mediated sodium influx exacerbates NLRP3-dependent inflammation in cystic fibrosis

eLife, 2019
Cystic Fibrosis (CF) is a monogenic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, resulting in defective CFTR-mediated chloride and bicarbonate transport, with dysregulation of epithelial sodium ...
Thomas Scambler, Heledd H Jarosz-Griffiths, Samuel Lara-Reyna, Shelly Pathak, Chi Wong, Jonathan Holbrook, Fabio Martinon, Sinisa Savic, Daniel Peckham, Michael F McDermott   +9 more
doaj   +1 more source

Neutralization of IFN-γ reverts clinical and laboratory features in a mouse model of macrophage activation syndrome. [PDF]

, 2018
BACKGROUND: The pathogenesis of macrophage activation syndrome (MAS) is not clearly understood: a large body of evidence supports the involvement of mechanisms similar to those implicated in the setting of primary hemophagocytic lymphohistiocytosis ...
Bracaglia, Claudia, Caiello, Ivan, Chatel, Laurence, De Min, Cristina, Fabrizio De Benedetti, And, Ferlin, Walter G., Grom, Alexei A., Marasco, Emiliano, Pascarella, Antonia, Prencipe, Giusi, Strippoli, Raffaele   +10 more
core   +1 more source

Adult Onset Still's Disease and Autoinflammation [PDF]

International Journal of Inflammation, 2012
The goal of this special issue is to present, in a comprehensive fashion, the latest data on Adult onset Still's Disease, within the broader context of the current concepts of autoinflammatory diseases and the immune mechanisms associated with them. A detailed review of Th-17 immune mechanisms and their association with autoinflammation by Waite and ...
Petros Efthimiou, L. Nandini Moorthy, Clio P. Mavragani, Dimitris Skokos, Bruno Fautrel   +4 more
openaire   +3 more sources

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement [PDF]

, 2013
Background: Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian diseases from individual families.
Bradfield, J., Cardinale, C., Golhar, R., Guo, Y. F., Hakonarson, H., Hou, C. P., Kim, C., Lyon, G. J., Otieno, F. G., Thomas, K., Toskala, E., Wang, K.   +11 more
core   +1 more source

NEMO‐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 more
wiley   +1 more source

Sarcoidosis and Autoinflammation

Inflammation and Regeneration, 2011
Sporadic early-onset sarcoidosis (EOS) and familial Blau syndrome (BS) form a distinct set of autoinflammatory diseases, both of which onset in infancy and show a clinical triad of dermatitis, arthritis and uveitis histologically composed of noncaseating epithelioid cell granuloma.
openaire   +2 more sources

Skin and Systemic Inflammation in Schnitzler's Syndrome Are Associated With Neutrophil Extracellular Trap Formation [PDF]

, 2019
Schnitzler's syndrome is a rare autoinflammatory disorder characterized by interleukin-1ß-mediated and neutrophil-dominated inflammation. Neutrophil extracellular traps (NETs) are web-like structures of decondensed chromatin, histones, and antimicrobial ...
Bonnekoh, Hanna, Hoffmann, Sheila, Krause, Karoline, Maurer, Marcus, Scheffel, Jörg, Wu, Jim   +5 more
core   +3 more sources

Integrative Analyses Identify a cGAS‐STING Pathway‐Driven Signature With Context‐Dependent Roles in Systemic Lupus Erythematosus

Advanced Science, Volume 13, Issue 25, 4 May 2026.
Zhang et al. identify M7core, a critical cGAS‐STING pathway‐driven gene signature that is activated in most lupus patients’ blood and links to lupus disease severity, lymphopenia, and lupus nephritis. They further reveal the diagnostic and pathogenic characteristics of M7core and emphasize the importance of assessing pathway activity before initiating ...
Lele Zhang, Ming‐Ju Amy Lyu, Ze Hong, Jing Sun, Lan Guo, Jiameng Hu, Munire Maimaiti, Chenhui Li, Jinyi Song, Xiang Zhang, Huansha Yu, Chen Wang, Xuan Wang, Haiyang Hu   +13 more
wiley   +1 more source