Tumor necrosis factor receptor-associated periodic syndrome in a pediatric patient A genetic diagnosis

被引:1
作者
Yakhmi, Neha [1 ]
Knutsen, Alan P. [1 ]
机构
[1] St Louis Univ, Dept Pediat, Div Allergy & Immunol, St Louis, MO 63103 USA
关键词
TERM-FOLLOW-UP; SYNDROME TRAPS; TNFRSF1A; CANAKINUMAB; MUTATIONS; RECURRENT;
D O I
10.1016/j.anai.2020.04.029
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
引用
收藏
页码:369 / 371
页数:3
相关论文
共 50 条
  • [31] Efficacy of anakinra in an adult patient with recurrent pericarditis and cardiac tamponade as initial manifestations of tumor necrosis factor receptor-associated periodic syndrome due to the R92Q TNFRSF1A variant
    Camprubi, Daniel
    Mitjavila, Francesca
    Arostegui, Juan I.
    Corbella, Xavier
    INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, 2017, 20 (04) : 510 - 514
  • [32] Long-Term Efficacy and Safety of Canakinumab in Patients With Tumor Necrosis Factor Receptor-Associated Periodic Syndrome: Results From a Phase III Trial
    Gattorno, Marco
    Obici, Laura
    Penades, Inmaculada Calvo
    Kallinich, Tilmann
    Benseler, Susanne
    Dekker, Elise
    Levy, Jeremy
    De Benedetti, Fabrizio
    Lachmann, Helen
    ARTHRITIS & RHEUMATOLOGY, 2024, 76 (02) : 304 - 312
  • [33] Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study
    Cantarini, Luca
    Lucherini, Orso Maria
    Brucato, Antonio
    Barone, Luca
    Cumetti, Davide
    Iacoponi, Francesca
    Rigante, Donato
    Brambilla, Giovanni
    Penco, Silvana
    Brizi, Maria Giuseppina
    Patrosso, Maria Cristina
    Valesini, Guido
    Frediani, Bruno
    Galeazzi, Mauro
    Cimaz, Rolando
    Paolazzi, Giuseppe
    Vitale, Antonio
    Imazio, Massimo
    CLINICAL RESEARCH IN CARDIOLOGY, 2012, 101 (07) : 525 - 531
  • [34] Patients with tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) are hypersensitive to Toll-like receptor 9 stimulation
    Negm, O. H.
    Singh, S.
    Abduljabbar, W.
    Hamed, M. R.
    Radford, P.
    McDermott, E. M.
    Drewe, E.
    Fairclough, L.
    Todd, I
    Tighe, P. J.
    CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2019, 197 (03) : 352 - 360
  • [35] A novel mutation in TNFRSF1A associated with overlapping features of tumour necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome
    Saulsbury, F. T.
    Remmers, E. F.
    Aksentijevich, I.
    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2010, 28 (01) : 94 - 96
  • [36] Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting as transfusion-dependent refractory haemophagocytosis
    Youngstein, Taryn
    Koh, Mickey B. C.
    Soto, Jose Ros
    Rowczenio, Dorota
    Trojer, Hadija
    Lachmann, Helen J.
    Sofat, Nidhi
    RHEUMATOLOGY, 2018, 57 (03) : 582 - 583
  • [37] receptor-associated periodic syndrome mimicking chronic spontaneous urticaria
    Aurich, S.
    Simon, J. C.
    Treudler, R.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2017, 31 (11) : E487 - E488
  • [38] Phenotypic variability in two patients with tumor necrosis factor receptor associated periodic fever syndrome emphasizes a rare manifestation: Immunoglobulin A nephropathy
    Balci, Sibel
    Ekinci, Rabia Miray Kisla
    Melek, Engin
    Atmis, Bahriye
    Bisgin, Atil
    Yilmaz, Mustafa
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (04)
  • [39] Biotechnological Agents for Patients With Tumor Necrosis Factor Receptor Associated Periodic Syndrome - Therapeutic Outcome and Predictors of Response: Real-Life Data From the AIDA Network
    Vitale, Antonio
    Obici, Laura
    Cattalini, Marco
    Lopalco, Giuseppe
    Merlini, Giampaolo
    Ricco, Nicola
    Soriano, Alessandra
    La Torre, Francesco
    Verrecchia, Elena
    Insalaco, Antonella
    Dagna, Lorenzo
    Jaber, Masen Abdel
    Montin, Davide
    Emmi, Giacomo
    Ciarcia, Luisa
    Barneschi, Sara
    Parronchi, Paola
    Ruscitti, Piero
    Maggio, Maria Cristina
    Viapiana, Ombretta
    Sota, Jurgen
    Gaggiano, Carla
    Giacomelli, Roberto
    Sicignano, Ludovico Luca
    Manna, Raffaele
    Renieri, Alessandra
    Lo Rizzo, Caterina
    Frediani, Bruno
    Rigante, Donato
    Cantarini, Luca
    FRONTIERS IN MEDICINE, 2021, 8
  • [40] Delights and let-downs in the management of tumor necrosis factor receptor-associated periodic syndrome: the canakinumab experience in a patient with a high-penetrance T50M TNFRSF1A variant
    Cantarini, Luca
    Lopalco, Giuseppe
    Vitale, Antonio
    Caso, Francesco
    Lapadula, Giovanni
    Iannone, Florenzo
    Galeazzi, Mauro
    Rigante, Donato
    INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, 2015, 18 (04) : 473 - 475