Results 51 to 60 of about 10,022 (165)

Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes

Frontiers in Immunology, 2020
Cyropyrin-associated periodic syndromes (CAPS) are clinically distinct syndromes that encompass a phenotypic spectrum yet are caused by alterations in the same gene, NLRP3.
Jenny Mae Samson, Dinoop Ravindran Menon, Prasanna K. Vaddi, Nazanin Kalani Williams, Joanne Domenico, Zili Zhai, Donald S. Backos, Mayumi Fujita, Mayumi Fujita, Mayumi Fujita   +9 more
doaj   +1 more source

Pluripotent stem cell‐based screening identifies CUDC‐907 as an effective compound for restoring the in vitro phenotype of Nakajo‐Nishimura syndrome

Stem Cells Translational Medicine, 2021
Nakajo‐Nishimura syndrome (NNS) is an autoinflammatory disorder caused by a homozygous mutations in the PSMB8 gene. The administration of systemic corticosteroids is partially effective, but continuous treatment causes severe side effects.
Naoya Kase, Madoka Terashima, Akira Ohta, Akira Niwa, Fumiko Honda‐Ozaki, Yuri Kawasaki, Tatsutoshi Nakahata, Nobuo Kanazawa, Megumu K. Saito   +8 more
doaj   +1 more source

Autosomal Dominant Hyper‐IgE Syndrome Patients Retain IL10‐Producing preTh17‐Cells That Are Activated by Opportunistic Pathogens and Support IgE Production

Allergy, EarlyView.
IL‐10 producing CCR6+Th‐cells are central memory T‐cells that express ROR‐γt and differentiate to Th17‐cells via an autocrine loop of STAT3‐activating cytokines (preTh17). STAT3‐deficient AD‐HIES patients lack Th17‐ and Tfh17‐cells but retain preTh17‐ and Th1/17‐cells.
Giorgia Moschetti, Chiara Vasco, Francesca Clemente, Paola Larghi, Sara Maioli, Edoardo Scarpa, Elena Carelli, Nadia Pulvirenti, Maria Lucia Sarnicola, Mariacristina Crosti, Manal Bel Imam, Willem van de Veen, Loris Rizzello, Sergio Abrignani, Lucia A. Baselli, Rosa Maria Dellepiane, Maria Carrabba, Giovanna Fabio, Jens Geginat   +18 more
wiley   +1 more source

TRAPS: An Autosomal Dominant Autoinflammatory Syndrome

Eurasian Journal of Medicine, 2019
Hereditary periodic fever syndromes are genetic autoinflammatory disorders characterized by recurrent attacks of fever and inflammation. These diseases include familial Mediterranean fever (FMF), Tumor necrosis factor receptor-associated periodic ...
Saliha Karatay, Meltem Alkan Melikoğlu
doaj  

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

Clinical and Laboratory Parameters of Autoinflammatory Disorders in Single Tertiary Care Center

Iranian Journal of Allergy, Asthma and Immunology, 2022
Autoinflammatory diseases (AIDs) are disorders with an inborn error of innate immunity, characterized by recurrent episodes of fever and inflammatory attacks.
Roya Sherkat, Alireza Rafiei, Vida Homayouni, Elmira Kalantari, Roya Sepahvandi, Sahar Memarmontazarin, Ali Mosayebian   +6 more
doaj  

Induced pluripotent stem cells representing Nakajo-Nishimura syndrome

Inflammation and Regeneration, 2019
Nakajo-Nishimura syndrome is a proteasome-associated autoinflammatory syndrome with a distinct homozygous mutation in the PSMB8 gene encoding an inducible β5i subunit of the immunoproteasome.
Nobuo Kanazawa, Fumiko Honda-Ozaki, Megumu K. Saito   +2 more
doaj   +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

S1 Guideline: Therapy of generalized pustular psoriasis

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary The S1 guideline “Therapy of generalized pustular psoriasis (GPP)” is a German guideline developed in accordance with the criteria of the AWMF. The full version addresses clinical presentation, pathogenesis, diagnosis and differential diagnosis, comorbidities, and therapy.
Rotraut Mößner, Neda Cramer, Sascha Gerdes, Ulrike Hüffmeier, Andreas Körber, Kai Krause, Christian Kromer, Katharina Antonia Langen, Sandra Philipp, Knut Schäkel, Michael P. Schön, Michael Schultheis, Lukas Sollfrank, Petra Staubach, Michael Sticherling, Johannes Wohlrab, Dagmar Wilsmann‐Theis, Cornelia Paul   +17 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source