Results 41 to 50 of about 94,301 (231)

The burgeoning field of innate immune-mediated disease and autoinflammation. [PDF]

, 2016
Immune-mediated autoinflammatory diseases are occupying an increasingly prominent position among the pantheon of debilitating conditions that afflict mankind.
McDermott, MF, Peckham, D, Savic, S, Scambler, T   +3 more
core   +1 more source

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis. [PDF]

, 2017
BACKGROUND: Monogenic autoinflammatory diseases (AID) are a rapidly expanding group of genetically diverse but phenotypically overlapping systemic inflammatory disorders associated with dysregulated innate immunity.
Ebun Omoyinmi, Ariane Standing, Annette Keylock, Fiona Price-Kuehne, Sonia Melo Gomes, Dorota Rowczenio, Sira Nanthapisal, Thomas Cullup, Rodney Nyanhete, Emma Ashton, Claire Murphy, Megan Clarke, Helena Ahlfors, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen J. Lachmann, Philip N. Hawkins, Nigel Klein, Paul A. Brogan, Junwen Wang, RA Russo, DL Kastner, M Stoffels, S Pathak, DM Rowczenio, E Omoyinmi, A Mensa-Vilaro, J de Inocencio, JI Arostegui, M Rusmini, M Kroese, M Kroese, AS Standing, H Li, K Wang, IG House, HJ Lachmann, N Ravet, DM Rowczenio, Y Wallis, S Richards, EL Chin, HL Rehm, M Meeths, S Nanthapisal, LM Baudhuin, DK Kim, Q Zhou, AC Cecchi, K Zhang, JM Derry, W Liu, S Dupuis-Girod, P Li, A Standing, AA De Jesus, NS Slavova-Azmanova, ML Hibbs, SJ Moat, N Tanaka, K Izawa, K Nakagawa, A Mensa-Vilaro, J Zhang, CG van El, J Kammermeier, MJ Browning, M Heindl   +68 more
core   +10 more sources

Insights into CANDLE Syndrome

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2020
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a recently described chronic autoinflammatory disease, pathophysiologically related to intracellular proteasome/immunoproteasome dysfunction.
Katarina Kieselová, Felicidade Santiago, Martinha Henrique   +2 more
doaj   +1 more source

Inflammasomes and dermatology [PDF]

Anais Brasileiros de Dermatologia, 2016
: Inflammasomes are intracellular multiprotein complexes that comprise part of the innate immune response. Since their definition, inflammasome disorders have been linked to an increasing number of diseases.
Daniel Coelho de Sá, Cyro Festa Neto
doaj   +1 more source

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  

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype [PDF]

, 2016
Autoinflammatory disorders (AID) are a heterogeneous group of diseases, characterized by an unprovoked innate immune response, resulting in recurrent or ongoing systemic inflammation and fever1-3.
Blokx, W. A. M., Boes, M., de Koning, H. D., de Kovel, C., Frenkel, J., Giltay, J., Oberndorff, K., Schalkwijk, J., Simon, A., van Gijn, M. E., van Kempen, T. S., van Steensel, M. A. M., van Well, G. T. J., Volker-Touw, C. M. L.   +13 more
core   +2 more sources

Muckle–Wells Syndrome in a Child With Recurrent Urticaria

Вопросы современной педиатрии, 2017
Cryopyrin associated periodic syndromes (CAPS) are rare monogenic autoinflammatory diseases from the group of hereditary periodic syndromes caused by a regulation defect of inflammatory cytokines, in particular interleukin 1β.
Elena M. Kamaltynova, Iulia P. Chasovskikh, Zinaida A. Maevskaia, Svetlana O. Salugina, Evgenii S. Fedorov, Inna E. Gerbek   +5 more
doaj   +1 more source

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies

Frontiers in Immunology, 2022
The NLRP3 inflammasome is one of the NOD-like receptor family members with the most functional characterization and acts as a key player in innate immune system, participating in several physiological processes including, among others, the modulation of ...
Chiara Moltrasio, Chiara Moltrasio, Maurizio Romagnuolo, Maurizio Romagnuolo, Angelo Valerio Marzano, Angelo Valerio Marzano   +5 more
doaj   +1 more source

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases [PDF]

, 2017
At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype.
Barcenas-Morales, G, Doffinger, R, Emery, P, McGonagle, D, Mistry, A, Savic, S, Wilson, AG   +6 more
core   +1 more source

Case report: JAK inhibition as promising treatment option of fatal RVCLS due to TREX1 mutation (pVAL235Glyfs*6)

Frontiers in Neurology, 2023
IntroductionAutosomal dominant mutations in the C-terminal part of TREX1 (pVAL235Glyfs*6) result in fatal retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) without any treatment options.
Friederike Ufer, Susanne M. Ziegler, Marcus Altfeld, Manuel A. Friese   +3 more
doaj   +1 more source