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Tumor necrosis factor-associated periodic syndrome is an autoinflammatory disorder classified under hereditary periodic fever syndromes. Mutations in the tumor necrosis factor receptor contribute to tumor necrosis factor-associated periodic syndrome. Decreased shedding of receptors and increased mitochondrial reactive oxygen species production lead...
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... Other clinical features include abdominal and chest pain, arthralgia, myalgia, eye involvement with uveitis or conjunctivitis and cutaneous manifestations [35]. ...
Urticaria is an inflammatory skin disorder that may occur in isolation or associated with angioedema and/or anaphylaxis. Clinically, it is characterized by the presence of smooth, erythematous or blanching, itchy swelling, called wheals or hives, which greatly vary in size and shape and last less than 24 h before fading to leave normal skin. Urticaria is the consequence of mast-cell degranulation that can be caused by immunological or non-immunological mechanisms. From a clinical point of view, many skin conditions can mimic urticaria and their recognition is mandatory for a correct management and therapeutic approach. We have reviewed all of the main relevant studies which addressed differential diagnosis of urticarial, published until December 2022. The National Library of Medicine PubMed database was used for the electronic research. The present review offers a clinical narrative overview, based on the available literature, of the principal skin disorders that can be misdiagnosed as urticaria (mainly autoinflammatory or autoimmune disorders, drug-induced reactions, and hyperproliferative diseases). The aim of this review is to provide clinicians a useful tool for correctly suspecting and identifying all of these conditions.
... Viele andere autoinflammatorische Multisystemerkrankun-gen wie zum Beispiel das «tumor necrosis factor receptor-associated periodic syndrome» (TRAPS), die sich typischerweise im Kindesund Jugendalter manifestieren, werden ebenfalls häufig von einer Polyserositis, meistens einer Peritonitis, begleitet. Bei Erstmanifestation im Erwachsenenalter finden sich aufgrund von Mutationen niedriger Penetranz oft milde Verläufe, die vermehrt von einer Perikarditis oder Pleuritis begleitet werden [9,10]. Selten bestehen diese sogar als einzige Manifestation der Erkrankung. ...
... Отличается TRAPS от других АВЗ наличием периорбитального отека и фасциитов с выраженными миалгиями и болезненной эритемой, но без повышения уровня маркеров деструкции мышц [11][12][13]. В литературе обсуждается отчетливая корреляция мутаций с фенотипическими проявлениями TRAPS. Известно, что мутации с заменой цистеиновых остатков ассоциированы с более тяжелым течением и высоким риском формирования амилоидоза [14], тогда как мутации S59P и R92Q определяют более поздний дебют и относительно мягкое течение с минимальным риском поражения внутренних органов [15]. ...
... Изучение эффективности и безопасности генно-инженерных биологических препаратов (ГИБП) у пациентов с TRAPS показало, что применение ингибиторов ФНО-α может вызывать клиническое улучшение, однако эффективно у ограниченного числа больных [13,17]. Более направленным терапевтическим действием обладают препараты, блокирующие ИЛ-1 [13,18,19], среди которых разрешенным для клинического использования в России является канакинумаб. ...
... Изучение эффективности и безопасности генно-инженерных биологических препаратов (ГИБП) у пациентов с TRAPS показало, что применение ингибиторов ФНО-α может вызывать клиническое улучшение, однако эффективно у ограниченного числа больных [13,17]. Более направленным терапевтическим действием обладают препараты, блокирующие ИЛ-1 [13,18,19], среди которых разрешенным для клинического использования в России является канакинумаб. Молекула канакинумаба -это рекомбинантная форма человеческого антагониста рецепторов ИЛ-1, который препятствует связыванию ИЛ-1β с рецептором ФНО-α и предотвращает воспалительный ответ [18][19][20][21]. ...
The complexity of diagnosing and predicting the course of TNF-receptor-associated periodic syndrome TRAPS determines the importance of studying the dependence of clinical manifestations on the variant of genetic mutation and the presence of modifier genes. We observed 5 children with an identified diagnosis of TRAPS. It was established that the disease onset in most cases is defined as a juvenile arthritis with systemic onset. Genetic variants with the replacement of cysteine residues are associated with an early debut and an aggressive course, the c.362G> A p.R121Q mutation is associated with an erosive damage to the spine. The case of a favorable course of TRAPS in siblings with a newly detected mutation is described. The development of urgent complications of TRAPS was revealed when basic therapy with canakinumab was canceled.
... Düşük penetranslı mutasyonlar hastalığın erişkin yaşta başlaması, farenjit ve oral ülser gibi daha hafif semptomlar ve kısa atak süresi, daha sık atak geçirme ve perikardit olasılığında artma ile ilişkili bulunmuştur. 21 Atakları önleyecek ve kontrol edecek, amiloidoz gibi komplikasyonların gelişimini engelleyecek altın standart bir tedavi seçeneği henüz geliştirilememiştir. Kolşisin, semptomlar ve amiloidoz gelişimi üzerinde etkili değildir. ...
Primary Immune Regulatory Disorders (PIRD) are a newly recognized group of inborn errors of immunity (IEI) that are characterized by immune-mediated pathology (Chan and Torgerson, 2020). Based on the genotype and phenotype, most PIRD fall into one of the following categories: T regulatory cell defects (also known as Tregopathies), autoinflammatory syndromes, nonmalignant lymphoproliferative disorders, interferonopathies, monogenic inflammatory bowel diseases (IBDs), and congenital atopic hypersensitivity. Some rheumatic diseases due to loss in self- tolerance can be considered PIRDs as well. Recognition of disease related manifestations of PIRD are crucial for prompt diagnosis and ensuing treatment of disease.
Autoinflammatory disorders are a broad spectrum of systemic disorders characterized by aberrant activation of the innate immunity with various combinations of mainly mucocutaneous, musculoskeletal, ocular, cardiovascular, neurological, and gastrointestinal manifestations. In the recent decade, the number of patients with systemic autoinflammation or disorders with autoinflammatory components has remarkably increased and several new disorders have been categorized in the autoinflammatory disorder entity. In addition, the development of advanced genetic techniques has played a pivotal role in expanding our knowledge about underlying genetic defects and immunopathogenesis. However, as patients with such abnormalities often present with nonspecific manifestations, for an accurate diagnosis, the primary care physician should have a high index of suspicion for the referral, and a multidisciplinary approach is required for both diagnosis and management of autoinflammatory disorders. In this chapter, autoinflammatory disorders are introduced based on the latest available updates in the literature and a diagnosis-to-treatment approach is perused to increase awareness among clinicians.
Autoinflammatory disorders are inherited diseases of innate immunity leading to uncontrolled activation of the interleukin-1 pathway. The disorders are characterized by unprovoked recurrent inflammation affecting primarily the skin, as well as the serosal and synovial membranes. As innate immunity is the culprit, there are no autoantibodies or autoreactive T-cells to aid in the diagnosis and reactive amyloidosis is a potential severe long-term complication [1, 2].
