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Relevant bibliographies by topics / Cold-induced autoinflammatory syndrome 1 protein

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Academic literature on the topic 'Cold-induced autoinflammatory syndrome 1 protein'

Author: Grafiati

Published: 5 June 2025

Last updated: 2 August 2025

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Journal articles on the topic "Cold-induced autoinflammatory syndrome 1 protein"

1

Fujisawa, Akihiro, Naotomo Kambe, Megumu Saito, et al. "Disease-associated mutations in CIAS1 induce cathepsin B–dependent rapid cell death of human THP-1 monocytic cells." Blood 109, no. 7 (2006): 2903–11. http://dx.doi.org/10.1182/blood-2006-07-033597.

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Abstract Mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene are associated with a spectrum of autoinflammatory diseases, including familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurologic, cutaneous, articular syndrome, also known as neonatal-onset multisystem inflammatory disease. CIAS1 encodes cryopyrin, a protein that localizes to the cytosol and functions as pattern recognition receptor. Cryopyrin also participates in nuclear factor-κB regulation and caspase-1–mediated maturation of interleukin 1β. In this study, we showed that di

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2

Raghawan, Akhouri Kishore, Rajashree Ramaswamy, Vegesna Radha, and Ghanshyam Swarup. "HSC70 regulates cold-induced caspase-1 hyperactivation by an autoinflammation-causing mutant of cytoplasmic immune receptor NLRC4." Proceedings of the National Academy of Sciences 116, no. 43 (2019): 21694–703. http://dx.doi.org/10.1073/pnas.1905261116.

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NLRC4 [nucleotide-binding domain and leucine-rich repeat (NLR) family, caspase recruitment domain (CARD) containing 4] is an innate immune receptor, which, upon detection of certain pathogens or internal distress signals, initiates caspase-1–mediated interleukin-1β maturation and an inflammatory response. A gain-of-function mutation, H443P in NLRC4, causes familial cold autoinflammatory syndrome (FCAS) characterized by cold-induced hyperactivation of caspase-1, enhanced interleukin-1β maturation, and inflammation. Although the H443P mutant shows constitutive activity, the mechanism involved in

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3

Ross, J. Barrie, Laura A. Finlayson, P. Jennifer Klotz, et al. "Use of Anakinra (Kineret) in the Treatment of Familial Cold Autoinflammatory Syndrome with a 16-Month Follow-Up." Journal of Cutaneous Medicine and Surgery 12, no. 1 (2008): 8–16. http://dx.doi.org/10.2310/7750.2008.07050.

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Background: The susceptibility gene for familial cold autoinflammatory syndrome (FCAS) has been mapped to chromosome 1q44 and a point mutation determined to be present in all affected members of a large Canadian kindred. Anakinra (Kineret) is known to block IL-1 receptor and in the few patients with FCAS in whom it has been used, it has been shown to provide relief for this lifelong disability. Objective: To demonstrate the efficacy and safety of anakinra (Kineret) in FCAS. Methods: Eight affected family members aged 29 to 77 years received anakinra 100 mg subcutaneously daily for 4 weeks prec

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4

Cudrici, Cornelia, Natalie Deuitch, and Ivona Aksentijevich. "Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives." International Journal of Molecular Sciences 21, no. 9 (2020): 3263. http://dx.doi.org/10.3390/ijms21093263.

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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory syndrome characterized by prolonged and recurrent episodes of fever, abdominal and/or chest pain, arthralgia, myalgia, and erythematous rash. TRAPS is associated with heterozygous variants in the TNFRSF1A gene, which encodes the TNFR1 (tumor necrosis factor receptor 1) receptor. Disease-causing variants are found exclusively in the extracellular domain of TNFR1 and affect receptor structure and binding to the TNF ligand. The precise mechanism of the disease is still unclear, but it is

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5

Salugina, S., E. Fedorov, K. Elena, E. Zakharova, and S. Palshina. "SAT0539 MUCKLE-WELLS SYNDROME IN RHEUMATOLOGY PRACTICE, FAMILY CASES: FEDERAL CENTER EXPERIENCE." Annals of the Rheumatic Diseases 79, Suppl 1 (2020): 1227.1–1227. http://dx.doi.org/10.1136/annrheumdis-2020-eular.2167.

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Background:Muckle-Wells syndrome (MWS) is a monogenic autoinflammatory disease caused by a NLRP3 gene mutation. It is the most common variant of cryopyrin-associated periodic syndromes (CAPSs) and can be observed in rheumatology practice. It manifests itself in fever, urticaria-like rash, arthralgias/arthritides, conjunctivitis/uveitis, sensorineural hearing loss, acute-phase markers (ESR, CRP). The disease’s onset usually takes place in infancy. There are examples of family cases. Targeted therapy: interleukin-1 inhibitors (anakinra, canakinumab).Objectives:to provide characteristics of MWS p

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6

Lobito, Adrian A., Fiona C. Kimberley, Jagan R. Muppidi, et al. "Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)." Blood 108, no. 4 (2006): 1320–27. http://dx.doi.org/10.1182/blood-2005-11-006783.

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AbstractTumor necrosis factor (TNF) receptor–associated periodic syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease associated with heterozygous mutations in TNF receptor 1 (TNFR1). Here we examined the structural and functional alterations caused by 9 distinct TRAPS-associated TNFR1 mutations in transfected cells and a mouse “knock-in” model of TRAPS. We found that these TNFR1 mutants did not generate soluble versions of the receptor, either through membrane cleavage or in exosomes. Mutant receptors did not bind TNF and failed to function as dominant-negative inhibito

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7

Tanaka, Takayuki, Akira Ohta, Masakatsu Yanagimachi, et al. "Disease Modeling and Drug Discovery Using Induced Pluripotent Stem Cells From CINCA Syndrome Patients." Blood 120, no. 21 (2012): 4680. http://dx.doi.org/10.1182/blood.v120.21.4680.4680.

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Abstract Abstract 4680 Chronic infantile neurologic cutaneous and articular syndrome (CINCA syndrome; MIM #607715) is a dominantly inherited autoinflammatory disease characterized by systemic inflammation with an urticaria-like rash, neurological manifestations, and arthropathy. NLRP3 mutation is the first and so far the only identified mutation that is responsible for CINCA syndrome. NLRP3 is expressed mainly in myelomonocytic lineage cells and chondrocytes, and acts as an intracellular sensor of danger signals from various cellular insults. In normal macrophages, a first stimulus, such as li

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8

Kuemmerle-Deschner, J. B., B. Kortus-Goetze, P. Oommen, et al. "POS0220 LONG-TERM SAFETY AND EFFECTIVENESS OF CANAKINUMAB IN CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES – 36-MONTH DATA FROM THE RELIANCE REGISTRY." Annals of the Rheumatic Diseases 81, Suppl 1 (2022): 346–47. http://dx.doi.org/10.1136/annrheumdis-2022-eular.4753.

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BackgroundThe cryopyrin-associated periodic fever syndromes (CAPS) are hereditary monogenic autoinflammatory diseases with severe systemic and organ inflammation due to increased production of Interleukin-1β (IL-1β). The subcutaneously administered monoclonal antibody canakinumab (CAN) effectively inhibits IL-1β and results in rapid remission of CAPS symptoms in clinical trials as well as in real-life.ObjectivesThe RELIANCE registry is designed to explore long-term safety and effectiveness of CAN under routine clinical practice conditions in pediatric (≥2 years) and adult patients with CAPS, i

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9

Mian, Syed A., Austin G. Kulasekararaj, Aytug Kizilors, et al. "NLRP3 Inflammosome Polymorphisms Are Enriched in Myelodysplastic Syndrome Patients with Autoimmune Disorders." Blood 126, no. 23 (2015): 1659. http://dx.doi.org/10.1182/blood.v126.23.1659.1659.

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Abstract Autoimmune disorders (AIDs) are commonly observed in up to 30% of myelodysplastic syndromes (MDS) patients. Clinical manifestations such as acute neutrophilic febrile dermatosis, rheumatoid arthritis, inflammatory bowel disease, pulmonary infiltrates and peripheral polyneuropathy, precede or accompany the diagnosis of MDS. In fact, large-scale epidemiologic studies have suggested that patients with AIDs have an elevated risk of developing MDS. To gain more insight into the association of MDS and AIDs, bone marrow mononuclear cells available from 202 patients were sequenced for 'inflam

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10

Schinold, Michael, and Sarah Oberholtzer. "A Case of Familial Cold Autoinflammatory Syndrome Type 2." Journal of Rheumatology 52, Suppl 2 (2025): 84.2–84. https://doi.org/10.3899/jrheum.2025-0314.83.

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BackgroundSystemic rheumatic diseases exist along a spectrum of autoimmune and autoinflammatory disorders. Autoinflammatory diseases (AID) result from errors of the innate immune system, which results in systemic inflammation. This differs from autoimmune syndromes which result from errors of the adaptive immune system when self-tolerance is broken and autoantibodies are generated.CaseMrs. X, a 46yo F, was referred for further evaluation and treatment of a possible cold autoinflammatory syndrome. She has a history of cold-induced episodes starting in her late childhood, which have worsened in

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