Results 41 to 50 of about 27,174 (202)

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
core   +1 more source

Isolated neurological presentations of mevalonate kinase deficiency

JIMD Reports, 2023
Mevalonate kinase (MK) deficiency is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the MVK gene with a broad phenotypic spectrum including autoinflammation, developmental delay and ataxia. Typically, neurological symptoms
Eva M. M. Hoytema van Konijnenburg, Esmeralda Oussoren, Joost Frenkel, Peter M. van Hasselt   +3 more
doaj   +1 more source

Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease

Frontiers in Immunology, 2021
The immune response to viral infection involves the recognition of pathogen-derived nucleic acids by intracellular sensors, leading to type I interferon (IFN), and downstream IFN-stimulated gene, induction.
Alice Lepelley, Timothy Wai, Yanick J. Crow, Yanick J. Crow   +3 more
doaj   +1 more source

Central nervous system manifestations of monogenic autoinflammatory disorders and the neurotropic features of SARS-CoV-2: Drawing the parallels

Frontiers in Pediatrics, 2022
Central nervous system (CNS) involvement in monogenic autoinflammatory disorders (AID) is increasingly recognized and can be life threatening. Therefore, a low threshold to consider CNS disease should be maintained in patients with systemic inflammation.
Thomas Renson, Thomas Renson, Thomas Renson, Lorraine Hamiwka, Lorraine Hamiwka, Susanne Benseler, Susanne Benseler   +6 more
doaj   +1 more source

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
core   +1 more source

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
core   +1 more source

Construction and evaluation of a chronic arthritis animal model induced by persistent activation of toll‐like receptors via lipopolysaccharide stimulation

Animal Models and Experimental Medicine, EarlyView.
We constructed a novel systemic juvenile idiopathic arthritis mouse model (LC) by introducing sustained TLR4 activation into the collagen‐induced arthritis model. The LC model effectively recapitulates human sJIA‐like systemic inflammation while revealing a critical dissociation between systemic immune activation and joint damage.
Fengming Li, Qiang Luo, Xinglin Wu, Yuxiao Chen, Xuemei Tang   +4 more
wiley   +1 more source

Feasibility and acceptance of KIDSCREEN-52 as a screening tool for unmet needs in children with rare inflammatory diseases

Journal of Rare Diseases
Background Children living with rare diseases often face significant psychosocial challenges; recognizing and addressing these effectively is crucial. However, there is a paucity of comprehensive screening tools.
Özlem Satirer, Gabi Erbis, Verena Heck, Tatjana Welzel, Christiane Reiser, Anne-Kathrin Gellner, Susanne M. Benseler, Jasmin B. Kuemmerle-Deschner   +7 more
doaj   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

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

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