Results 81 to 90 of about 5,018,411 (238)

Genotype-phenotype correlation in a cohort of pediatric patients with autoinflammatory diseases carrying NOD2 variants

Frontiers in Immunology
BackgroundAutoinflammatory diseases (AIDs) are a group of disease characterized by excessive activation of the innate immune system with episodes of spontaneous inflammation that can affect different organs.
Marco Francesco Natale, Camilla Celani, Silvia Federici, Chiara Passarelli, Chiara Perrone, Emiliano Marasco, Fabrizio De Benedetti, Antonella Insalaco   +7 more
doaj   +1 more source

Skin Abnormalities at Checkpoint Inhibitor Therapy Initiation Are Associated With Skin Rash Development in Oncology Patients

Allergy, EarlyView.
Skin tape strip lipidomic analysis revealed preexisting skin barrier lipid abnormalities at day 0 that were further exacerbated after 6 weeks of CPI treatment. Significant changes in skin (but not plasma) proinflammatory cytokines were identified in future ircAE patients after 6 weeks of CPI immunotherapy.
Taras Lyubchenko, Evgeny Berdyshev, Ryan M. Weight, Olivia Xiao, Neil J. Shah, Alina Markova, Mario E. Lacouture, Jeffrey A. Kern, Elena Goleva, Donald Y. M. Leung   +9 more
wiley   +1 more source

A genetic and historical perspective on the origins of keratitis fugax hereditaria

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the genetic and genealogical background of keratitis fugax hereditaria (KFH), a periodic corneal disease caused by the heterozygous pathogenic variant c.61G>C in the NLRP3 gene. KFH is characterized by recurrent unilateral autoinflammatory attacks alternating between the eyes and permanent corneal opacities.
Annamari T. Immonen, Sara P. Luostarinen, Päivi Lahermo, Sabita Kawan, Kati Donner, Joseph D. Terwilliger, Michael P. Backlund, Joni A. Turunen   +7 more
wiley   +1 more source

Development of the autoinflammatory disease damage index (ADDI) [PDF]

, 2016
OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently,
Quartier, Pierre, Della Casa Alberighi, Ornella, Nielsen, Susan, De Jesus, Adriana A., Ter Haar, Nienke M, Cochino, Alexis Virgil, De Benedetti, Fabrizio, Ozen, Seza, Durrant, Karen L., Annink, Kim V, Dolezalova, Pavla, Hentgen, Veronique, Barron, Karyl, de Jesus, Adriana Almeida, Kozlova, Anna, Herlin, Troels, Jansson, Annette F, Jesus, Adriana A. de, Kuemmerle Deschner, Jasmin B, Hofer, Michaël, Amaryan, Gayane, Trachana, Maria, Al Mayouf, Sulaiman M, Goldbach Mansky, Raphaela, Frenkel, Joost, Lachmann, Helen J., Brogan, Paul A., Laxer, Ronald M., Kümmerle-Deschner, Jasmin B., Gallizzi, Romina, Papadopoulou Alataki, Efimia, Brogan, Paul A, Koné Paut, Isabelle, Barron, Karyl S, Ombrello, Amanda K., Al-Mayouf, Sulaiman M, Laxer, Ronald M, Ter Haar, Nienke M., Uziel, Yosef, Kuemmerle-Deschner, Jasmin B., Kallinich, Tilmann, Benedetti, Fabrizio de, Hofer, Michael, 1966-, Hoffman, Hal M., Cattalini, Marco, Anton, Jordi, Durrant, Karen L, Brogan, Paul, Koné-Paut, Isabelle, Al-Mayouf, Sulaiman M., Antón López, Jordi, Fabio, Giovanna, Martini, Alberto, Gattorno, Marco, Casa Alberighi, Ornella della, Hachulla, Eric, Hoffman, Hal M, Insalaco, Antonella, Simon, Anna, Nikishina, Irina, Ombrello, Amanda K, CANTARINI, LUCA, Jansson, Annette F., Alberighi, Ornella Della Casa, Benseler, Susanne M, Russo, Ricardo, Benseler, Susanne M., Cochino, Alexis-Virgil, Goldbach-Mansky, Raphaela, Ravelli, Angelo, Kuemmerle-Deschner, Jasmin, Papadopoulou-Alataki, Efimia, Barron, Karyl S., Dedeoglu, Fatma, De Jesus, Adriana A, Demirkaya, Erkan, Lachmann, Helen J, Annink, Kim V., Rigante, Donato   +78 more
core   +2 more sources

First description of late-onset autoinflammatory disease due to somatic NLRC4 mosaicism

, 2022
Objective: Autoinflammatory diseases are inherited disorders of innate immunity that usually start during childhood. However, several recent reports have described an increasing number of patients with autoinflammatory disease starting in adulthood. This
Jordi Yagüe, Juan I. Aróstegui, Paola Castillo, Castillo, Paola, Silvia Romero‐Chala, Joana Marques, Casals López, Ferran, Baldomero Oliva, Laura Hurtado‐Navarro, Pablo Pelegrín, Molina-López, Cristina, Buján, Segundo, Ionescu, Daniela, Yagüe, Jordi L., Aróstegui Gorospe, Juan Ignacio, Plaza, Susana, Marques, Joana, Alejandro Peñín‐Franch, Mensa Vilaró, Anna, Pelegrín, Pablo, Fabregat, Virginia, Oliva Miguel, Baldomero, Ferran Casals, Virginia Fabregat, Luis Miguel Fernández‐Pereira, Fernández-Pereira, Luis Miguel, Romero-Chala, Silvia, Susana Plaza, Segundo Buján, Hurtado Navarro, Laura, Daniela Ionescu, Cristina Molina‐López, Anna Mensa‐Vilaró, Peñín Franch, Alejandro   +33 more
core   +1 more source

Shared and Distinguishing Features of Late‐Onset Rheumatic Diseases Fulfilling Polymyalgia Rheumatica Classification Criteria

Arthritis &Rheumatology, EarlyView.
Kerem Abacar, Ala Altaie, Andrew Barr, Sarah L. Mackie, Kulveer Mankia, Dennis McGonagle   +5 more
wiley   +1 more source

Functional assessment of inherited myeloid neoplasm‐associated SAMD9L germline variants via Monoallelic CRISPR modelling

British Journal of Haematology, EarlyView.
Summary While the majority of myeloid neoplasms are sporadic, the increasing application of germline genetic testing has led the World Health Organization to designate ‘Myeloid malignancies with germline predisposition’ as a distinct clinical entity, carrying major implications for clinical care and research.
Elena Vuelta, Alessandro Liquori, Matias Morín, Lucia Soletto, Miguel Ángel Marugal, Marta Santiago‐Balsera, Miguel Gallardo, Miguel Ángel Moreno‐Pelayo, José Cervera, Alejandra Sanjuan‐Pla   +9 more
wiley   +1 more source

New Mechanisms in Autoinflammatory Diseases

, 2017
New knowledge on the role of RhoA in the modulation of the pyrin inflammasome opened the way to a better understanding of two apparently unrelated autoinflammatory disorders: Familial Mediterranean Fever (FMF; OMIM#249100) and Mevalonate Kinase ...
Alberto Tommasini, Annalisa Marcuzzi, Erica Valencic, Elisa Piscianz   +3 more
core  

Training Opportunities Within the National Institute of Arthritis and Musculoskeletal and Skin Diseases

Arthritis &Rheumatology, EarlyView.
Janelle Hauserman, Isaah Vincent
wiley   +1 more source

An Atypical Skin Presentation of Adult‐Onset Still's Disease With Histological Description: A Case Report

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Adult‐onset Still's disease (AOSD) is an auto inflammatory disorder with a variable clinical presentation, and without a pathognomonic diagnostic test, characterized by high spiking fever, arthralgia/arthritis, a suggestive skin rash, elevated white blood cell count 10 G/L (> 80% neutrophils), elevated ferritin, with glycosylated ferritin < 20%
M. Nordmann, T. Mazza, S. Menzinger, G. Kaya, S. Bogiatzi, S. Vandenberghe‐Dürr, M. Blanchard, J. Stirnemann   +7 more
wiley   +1 more source