Works matching DE "CRYOPYRIN-associated periodic syndromes"

Results: 262

Correction to: Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin‐Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti‐Interleukin‐1 Therapy.

Published in:: 2025
Publication type:: Correction Notice

Cardiovascular manifestations of monogenic periodic fever syndromes.

Published in:

Clinical Rheumatology, 2023, v. 42, n. 10, p. 2717, doi. 10.1007/s10067-023-06504-z

By:

Sönmez, Hafize Emine;
Bayındır, Yağmur;
Batu, Ezgi Deniz

Publication type:

Article

The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort.

Published in:

Clinical Rheumatology, 2023, v. 42, n. 6, p. 1645, doi. 10.1007/s10067-023-06557-0

By:

Çağlayan, Şengül;
Mardinoğlu, Gizem;
Yarar, Murat Hakkı;
Ulu, Kadir;
Coşkuner, Taner;
Yiğit, Ramazan Emre;
Baykal, Gülcan Özomay;
Türkmen, Şeyma;
Çakan, Mustafa;
Demir, Ferhat;
Sözeri, Betül

Publication type:

Article

Correction to: Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.

Published in:

2022

By:

Chen, Shirui;
Li, Zhen;
Hu, Xia;
Zhang, Hui;
Chen, Weiwei;
Xu, Qiongqiong;
Tang, Lili;
Ge, Huiyao;
Zhen, Qi;
Yong, Liang;
Yu, Yafen;
Cao, Lu;
Zhang, Ruixue;
Hao, Yong;
Shi, Jihai;
Sun, Liangdan

Publication type:

Correction Notice

Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.

Published in:

Clinical Rheumatology, 2022, v. 41, n. 11, p. 3461, doi. 10.1007/s10067-022-06292-y

By:

Chen, Shirui;
Li, Zhen;
Hu, Xia;
Zhang, Hui;
Chen, Weiwei;
Xu, Qiongqiong;
Tang, Lili;
Ge, Huiyao;
Zhen, Qi;
Yong, Liang;
Yu, Yafen;
Cao, Lu;
Zhang, Ruixue;
Hao, Yong;
Shi, Jihai;
Sun, Liangdan

Publication type:

Article

Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation.

Published in:

Clinical Rheumatology, 2022, v. 41, n. 7, p. 2233, doi. 10.1007/s10067-022-06130-1

By:

Itamiya, Takahiro;
Komai, Toshihiko;
Kanda, Hiroko;
Nagafuchi, Yasuo;
Chang, Hyangri;
Shibata, Shota;
Ishiura, Hiroyuki;
Shoda, Hirofumi;
Toda, Tatsushi;
Fujio, Keishi

Publication type:

Article

Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.

Published in:

Clinical Rheumatology, 2021, v. 40, n. 6, p. 2327, doi. 10.1007/s10067-020-05492-8

By:

Sözeri, Betül;
Demir, Ferhat;
Sönmez, Hafize Emine;
Karadağ, Şerife Gül;
Demirkol, Yasemin Kendir;
Doğan, Özlem Akgün;
Doğanay, Hamdi Levent;
Ayaz, Nuray Aktay

Publication type:

Article

Genetic analysis utility in rare and uncharacterized autoinflammatory diseases.

Published in:

2021

By:

Bixio, Riccardo

Publication type:

Letter

Can therapeutic response to IL-1 blockade confirm the diagnosis of Schnitzler syndrome?

Published in:

2021

By:

Wang, Chen

Publication type:

Letter

A case of cryopyrin-associated periodic fever syndrome during canakinumab administration complicated by inflammatory bowel disease.

Published in:

Clinical Rheumatology, 2021, v. 40, n. 1, p. 393, doi. 10.1007/s10067-020-05267-1

By:

Yamasaki, Yuichi;
Kubota, Tomohiro;
Takei, Syuji;
Imanaka, Hiroyuki;
Nonaka, Yukiko;
Kawano, Yoshifumi

Publication type:

Article

Early canakinumab therapy for the sensorineural deafness in a family with Muckle-Wells syndrome due to a novel mutation of NLRP3 gene.

Published in:

Clinical Rheumatology, 2019, v. 38, n. 3, p. 943, doi. 10.1007/s10067-018-4331-8

By:

Iida, Yasunori;
Wakiguchi, Hiroyuki;
Okazaki, Fumiko;
Nakamura, Tamaki;
Yasudo, Hiroki;
Kubo, Makoto;
Sugahara, Kazuma;
Yamashita, Hiroshi;
Suehiro, Yutaka;
Okayama, Naoko;
Hashimoto, Kunio;
Iwamoto, Naoki;
Kawakami, Atsushi;
Aoki, Yoshiharu;
Takada, Hidetoshi;
Ohga, Shouichi;
Hasegawa, Shunji

Publication type:

Article

Development and effect of antibodies to anakinra during treatment of severe CAPS: sub-analysis of a long-term safety and efficacy study.

Published in:

Clinical Rheumatology, 2018, v. 37, n. 12, p. 3381, doi. 10.1007/s10067-018-4196-x

By:

Wikén, Margareta;
Hallén, Bengt;
Kullenberg, Torbjörn;
Koskinen, Lisa Osterling

Publication type:

Article

Muckle-Wells syndrome in Chinese patients: a single center case series.

Published in:

Clinical Rheumatology, 2017, v. 36, n. 4, p. 965, doi. 10.1007/s10067-016-3523-3

By:

Wu, Di;
Shen, Min

Publication type:

Article

Renal involvement in secondary amyloidosis of Muckle-Wells syndrome: marked improvement of renal function and reduction of proteinuria after therapy with human anti-interleukin-1β monoclonal antibody canakinumab.

Published in:

Clinical Rheumatology, 2015, v. 34, n. 7, p. 1311, doi. 10.1007/s10067-013-2481-2

By:

Scarpioni, Roberto;
Rigante, Donato;
Cantarini, Luca;
Ricardi, Marco;
Albertazzi, Vittorio;
Melfa, Luigi;
Lazzaro, Antonio

Publication type:

Article

Performance of recent PRINTO criteria versus current ILAR criteria for systemic juvenile idiopathic arthritis: A single-centre experience.

Published in:

Modern Rheumatology, 2023, v. 33, n. 1, p. 187, doi. 10.1093/mr/roab115

By:

Koker, Oya;
Demirkan, Fatma Gul;
Cakmak, Figen;
Ayaz, Nuray Aktay

Publication type:

Article

Impact of IL-1 inhibition on fatigue associated with autoinflammatory syndromes.

Published in:

Modern Rheumatology, 2016, v. 26, n. 1, p. 3, doi. 10.3109/14397595.2015.1069459

By:

Yadlapati, Sujani;
Efthimiou, Petros

Publication type:

Article

Pathogenesis of systemic inflammatory diseases in childhood: 'Lessons from clinical trials of anti-cytokine monoclonal antibodies for Kawasaki disease, systemic onset juvenile idiopathic arthritis, and cryopyrin-associated periodic fever syndrome'.

Published in:

Modern Rheumatology, 2015, v. 25, n. 1, p. 1, doi. 10.3109/14397595.2014.902747

By:

Yokota, Shumpei;
Kikuchi, Masako;
Nozawa, Tomo;
Kanetaka, Taichi;
Sato, Tomomi;
Yamazaki, Kazuko;
Sakurai, Nodoka;
Hara, Ryoki;
Mori, Masaaki

Publication type:

Article

Inhibition of the NF-κB pathway as a candidate therapeutic strategy for cryopyrin-associated periodic syndrome.

Published in:

Modern Rheumatology, 2014, v. 24, n. 3, p. 517, doi. 10.3109/14397595.2013.844298

By:

Shimogaki, Satoka;
Ito, Sayaka;
Komatsu, Sachiyo;
Koike, Ryuji;
Miyasaka, Nobuyuki;
Umezawa, Kazuo;
Kubota, Tetsuo

Publication type:

Article

Granulomatous Tubulointerstitial Nephritis in a Kidney Allograft: Treatment with Interleukin-6 Receptor Antagonist Stabilises Kidney Function.

Published in:

2024

By:

Doctor, Gabriel T.;
Dudreuilh, Caroline;
Perera, Ranmith;
Dorling, Anthony

Publication type:

Case Study

A Systematic Review of the Safety of Blocking the IL-1 System in Human Pregnancy.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 1, p. 225, doi. 10.3390/jcm11010225

By:

Brien, Marie-Eve;
Gaudreault, Virginie;
Hughes, Katia;
Hayes, Dexter J. L.;
Heazell, Alexander E. P.;
Girard, Sylvie

Publication type:

Article

COVID-19 in Autoinflammatory Diseases with Immunosuppressive Treatment.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 605, doi. 10.3390/jcm10040605

By:

Welzel, Tatjana;
Samba, Samuel Dembi;
Klein, Reinhild;
van den Anker, Johannes N.;
Kuemmerle-Deschner, Jasmin B.;
Demirkaya, Eugen Feist; Eugen Feist; Erkan

Publication type:

Article

Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today?

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 1, p. 128, doi. 10.3390/jcm10010128

By:

Welzel, Tatjana;
Kuemmerle-Deschner, Jasmin B.

Publication type:

Article

The Dysfunction of the Cerebellum and Its Cerebellum-Reward-Sensorimotor Loops in Chronic Spontaneous Urticaria.

Published in:

Cerebellum, 2018, v. 17, n. 5, p. 507, doi. 10.1007/s12311-018-0933-6

By:

Wang, Yuming;
Fang, Jiliang;
Song, Ping;
Bao, Yan;
Song, Wenwen;
Liu, Jiao;
Lang, Courtney;
Jorgenson, Kristen;
Jung, Minyoung;
Shen, Dong;
Li, Shasha;
Sun, Ruirui;
Ding, Xu;
Yang, Jiao;
Meng, Xiao;
Wang, Ning;
Yan, Zhifang;
Yan, Yuhe;
Kong, Qian;
Dong, Ying

Publication type:

Article

The Role of Interleukin-1 Beta C-511T as a Modifier Polymorphism in Cryopyrin-associated Periodic Syndromes.

Published in:

Journal of Pediatric Research, 2019, v. 6, n. 3, p. 247, doi. 10.4274/jpr.galenos.2019.93446

By:

Özyılmaz, Berk;
Özdemir, Taha Reşid

Publication type:

Article

Additional Benefit of Canakinumab on Proteinuria in a Case With Muckle-Wells Syndrome in Remission Under Anakinra.

Published in:

Archives of Rheumatology, 2020, v. 35, n. 1, p. 149, doi. 10.5606/ArchRheumatol.2020.7378

By:

İLGEN, Ufuk;
KÜÇÜKŞAHİN, Orhan

Publication type:

Article

MVK, NLRP3, TNFRSF1A and MEFV gene mutation distributions in childhood autoinflammatory diseases: Experiences in North Anatolia.

Published in:

Journal of Experimental & Clinical Medicine / Deneysel ve Klinik Tip Dergisi, 2023, v. 40, n. 4, p. 681, doi. 10.52142/omujecm.40.4.3

By:

ALTUNDAĞ, Engin;
ABUR, Ümmet;
AKAR, Ömer Salih;
YILDIRAN, Alişan;
ÇELİKSOY, Mehmet Halil;
PAUL, Alberta G. A.;
MUTLU, Hatice;
KARADAĞ ALPARSLAN, Medine;
OĞUR, Gönül

Publication type:

Article

Potential of IL-1, IL-18 and Inflammasome Inhibition for the Treatment of Inflammatory Skin Diseases.

Published in:

Frontiers in Pharmacology, 2017, v. 8, p. 1, doi. 10.3389/fphar.2017.00278

By:

Fenini, Gabriele;
Contassot, Emmanuel;
French, Lars E.

Publication type:

Article

Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study.

Published in:

Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2023.1321370

By:

Yun, Mark;
Zuoming Deng;
Navetta-Modrov, Brianne;
Baozhong Xin;
Jie Yang;
Nomani, Hafsa;
Aroniadis, Olga;
Gorevic, Peter D.;
Qingping Yao

Publication type:

Article

Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn.

Published in:

Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1238551

By:

Mingyu Xie;
Jingjing Wan;
Xin Zheng;
Xian Zou;
Wanting Chen;
Kanglin Zhang;
Huiting Yuan;
Zhenhong Zhang;
Haisheng Zeng

Publication type:

Article

The genetic and clinical characteristics and effects of Canakinumab on cryopyrinassociated periodic syndrome: a large pediatric cohort study from China.

Published in:

Frontiers in Immunology, 2023, p. 01, doi. 10.3389/fimmu.2023.1267933

By:

Zhou Shu;
Yue Zhang;
Tongxin Han;
Yan Li;
Yurong Piao;
Fei Sun;
Jin Ma;
Wenxiu Mo;
Jiapeng Sun;
Koon-Wing Chan;
Wanling Yang;
Yu-Lung Lau;
Huawei Mao

Publication type:

Article

Single-cell transcriptomic analysis in two patients with rare systemic autoinflammatory diseases treated with anti-TNF therapy.

Published in:

Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1091336

By:

Yichao Hua;
Na Wu;
Junke Miao;
Min Shen

Publication type:

Article

Ocular Involvement in Muckle-Wells Syndrome.

Published in:

2020

By:

Cekic, Sukru;
Yalcinbayir, Ozgur;
Kilic, Sara Sebnem

Publication type:

journal article

Cryopyrin-associated Periodic Syndromes and the Eye.

Published in:

Ocular Immunology & Inflammation, 2013, v. 21, n. 4, p. 306, doi. 10.3109/09273948.2013.765016

By:

Oberg, Thomas J.;
Vitale, Albert T.;
Hoffman, Robert O.;
Bohnsack, John F.;
Warner, Judith E.

Publication type:

Article

Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.

Published in:

Rheumatology, 2023, v. 62, n. 8, p. 2665, doi. 10.1093/rheumatology/keac712

By:

Delplanque, Marion;
Fayand, Antoine;
Boursier, Guilaine;
Grateau, Gilles;
Savey, Léa;
Georgin-Lavialle, Sophie

Publication type:

Article

Comment on: Effective ex vivo inhibition of cryopyrin-associated periodic syndrome (CAPS)-associated mutant NLRP3 inflammasome by MCC950/CRID3.

Published in:

2023

By:

Walle, Lieselotte Vande;
Lamkanfi, Mohamed

Publication type:

Letter to the Editor

Comment on: Effective ex vivo inhibition of cryopyrin-associated periodic syndrome (CAPS)-associated mutant NLRP3 inflammasome by MCC950/CRID3: Reply.

Published in:

2023

By:

Weber, Alexander N R;
Tapia-Abellán, Ana;
Liu, Xiao;
Aróstegui, Juan I;
Pelegrín, Pablo;
Welzel, Tatjana;
Kuemmerle-Deschner, Jasmin B

Publication type:

Letter to the Editor

AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.

Published in:

Rheumatology, 2022, v. 61, n. 12, p. 4827, doi. 10.1093/rheumatology/keac145

By:

Rodrigues, François;
Cuisset, Laurence;
Cador-Rousseau, Bérangère;
Giurgea, Irina;
Neven, Benedicte;
Buob, David;
Quartier, Pierre;
Hachulla, Eric;
Lequerré, Thierry;
Cam, Gérard;
Boursier, Guilaine;
Hervieu, Valérie;
Grateau, Gilles;
Georgin-Lavialle, Sophie

Publication type:

Article

Effective ex vivo inhibition of cryopyrin-associated periodic syndrome (CAPS)-associated mutant NLRP3 inflammasome by MCC950/CRID3.

Published in:

Rheumatology, 2022, v. 61, n. 10, p. e299, doi. 10.1093/rheumatology/keac273

By:

Weber, Alexander N R;
Tapia-Abellán, Ana;
Liu, Xiao;
Dickhöfer, Sabine;
Aróstegui, Juan I;
Pelegrín, Pablo;
Welzel, Tatjana;
Kuemmerle-Deschner, Jasmin B

Publication type:

Article

Safety of canakinumab during pregnancy: seven new cases.

Published in:

2022

By:

Weber, Emmanuelle;
Millet, Aurélien;
Beghin, Delphine;
Viel, Sebastien;
Guitton, Jérôme;
Gerfaud-Valentin, Mathieu;
Sève, Pascal;
Jamilloux, Yvan

Publication type:

Case Study

Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra.

Published in:

Rheumatology, 2021, v. 60, n. 3, p. 1523, doi. 10.1093/rheumatology/keaa511

By:

Kim, Bong Jik;
Kim, Young Ho;
Lee, Seungmin;
Han, Jin Hee;
Lee, Sang-Yeon;
Seong, Jeon;
Lee, Dong-Han;
Kim, Bonggi;
Park, Hye-Rim;
Carandang, Marge;
Oh, Dooyi;
Oh, Seung Ha;
Kim, Joong Gon;
Lee, Soyoung;
Choi, Byung Yoon

Publication type:

Article

Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database.

Published in:

Rheumatology, 2020, v. 59, n. 10, p. 2947, doi. 10.1093/rheumatology/keaa031

By:

Dingulu, Glory;
Georgin-Lavialle, Sophie;
Koné-Paut, Isabelle;
Pillet, Pascal;
Pagnier, Anne;
Merlin, Etienne;
Kaiser, Daniela;
Belot, Alexandre;
Hofer, Michael;
Hentgen, Véronique

Publication type:

Article

Cryopyrin-associated periodic syndrome presenting with posterior scleritis.

Published in:

Rheumatology, 2019, v. 58, n. 12, p. 2337, doi. 10.1093/rheumatology/kez197

By:

Alvarez, Erica R;
Corless, Brady;
Kontzias, Apostolos;
Cebulla, Colleen M

Publication type:

Article

E039 Late onset cryopyrin-associated periodic syndrome due to myeloid-restricted somatic NLRP3 mosaicism and ankylosing spondylitis.

Published in:

2019

By:

Palmou-Fontana, Natalia;
Armesto, Susana;
Martin-Penagos, Luis;
Arostegui, Juan Ignacio;
Portilla-Gonzalez, Virginia;
Varillas, Jose Luis Martin;
Vian, Carlos Duran;
Gonzalez-Gay, Miguel Angel

Publication type:

Abstract

P06 A novel NLRP3 gene mutation associated with an atypical picture of CAPS.

Published in:

2018

By:

Brighouse, James R;
Shivamurthy, Vinay;
Wilkinson, Nick

Publication type:

Abstract

Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome.

Published in:

Rheumatology, 2018, v. 57, n. 1, p. 100, doi. 10.1093/rheumatology/kex373

By:

Jamilloux, Yvan;
Lefeuvre, Lucie;
Magnotti, Flora;
Martin, Amandine;
Benezech, Sarah;
Allatif, Omran;
Penel-Page, Mathilde;
Hentgen, Véronique;
Sève, Pascal;
Gerfaud-Valentin, Mathieu

Publication type:

Article

Safety of vaccinations in patients with cryopyrin-associated periodic syndromes: a prospective registry based study.

Published in:

Rheumatology, 2017, v. 56, n. 9, p. 1484, doi. 10.1093/rheumatology/kex185

By:

Jaeger, Veronika K.;
Hoffman, Hal M.;
van der Poll, Tom;
Tilson, Hugh;
Seibert, Julia;
Speziale, Antonio;
Junge, Guido;
Franke, Kristina;
Vritzali, Eleni;
Hawkins, Philip N.;
Kuemmerle-Deschner, Jasmin;
Walker, Ulrich A.

Publication type:

Article

Long-term safety profile of anakinra in patients with severe cryopyrin-associated periodic syndromes.

Published in:

Rheumatology, 2016, v. 55, n. 8, p. 1499, doi. 10.1093/rheumatology/kew208

By:

Kullenberg, Torbjörn;
Löfqvist, Malin;
Leinonen, Mika;
Goldbach-Mansky, Raphaela;
Olivecrona, Hans

Publication type:

Article

Comment on: Real-life effectiveness of canakinumab in cryoprin-associated periodic syndrome.

Published in:

2016

By:

Junge, Guido;
Machein, Uwe;
Kuemmerle-Deschner, Jasmin B.;
Benseler, Susanne M.

Publication type:

Letter to the Editor

Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome.

Published in:

Rheumatology, 2016, v. 55, n. 4, p. 689, doi. 10.1093/rheumatology/kev416

By:

Kuemmerle-Deschner, Jasmin B.;
Hofer, Ferdinand;
Endres, Theresa;
Kortus-Goetze, Birgit;
Blank, Norbert;
Weißbarth-Riedel, Elisabeth;
Schuetz, Catharina;
Kallinich, Tilmann;
Krause, Karoline;
Rietschel, Christoph;
Horneff, Gerd;
Benseler, Susanne M.

Publication type:

Article

Diagnostic value of skin biopsy in autoinflammatory diseases for patients with recurrent fever and urticarial eruption.

Published in:

Clinical & Experimental Dermatology, 2021, v. 46, n. 4, p. 728, doi. 10.1111/ced.14508

By:

Pham, F.;
Schissler, C.;
Schaeffer, M.;
Lachmann, H.‐J.;
Lipsker, D.

Publication type:

Article