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Vasculitis
Published in Jason Liebowitz, Philip Seo, David Hellmann, Michael Zeide, Clinical Innovation in Rheumatology, 2023
Michelle L. Robinette, Eli Miloslavsky, Zachary S. Wallace
Although not discussed in this chapter, the COVID-19 pandemic will undoubtedly continue to shape the future of rheumatology, including vasculitis. We expect that additional studies of the vascular phenomena of COVID-19, especially small-vessel vasculopathy and thrombosis, will provide molecular insights into human vascular injury. Meanwhile, investigations of children with multisystem inflammatory syndrome of children (MIS-C), a post-COVID-19 autoinflammatory syndrome which shares features with KD (119, 120), are likely to generate further insights into the pathogenesis of KD (121). Indeed, the variability of HLA associations observed in KD may be a result of divergent infectious triggers and/or causative antigens across ancestral groups.
Urticaria and Angioedema
Published in Pudupakkam K Vedanthan, Harold S Nelson, Shripad N Agashe, PA Mahesh, Rohit Katial, Textbook of Allergy for the Clinician, 2021
Jenny M Stitt, Stephen C Dreskin
In patients with physical urticarias, systemic disorders must be further considered. For example, solar urticaria must be distinguished from other light-sensitive disorders including solar dermatitis, lupus, porphyria and photsensitivity reactions to medications (Dice 2004). Cold urticaria must be distinguished from the Familial Cold Autoinflammatory Syndrome (FCAS), an autosomal dominant disease (Wanderer 2004). Following cold exposure, individuals with FCAS experience papular dermatitis (not urticaria) with fever, chills, headache, arthralgia and myalgia and leukocytosis. Symptoms occurred at an average of 2.5 hours after cold exposure with average episodes lasting 12 hours (Hiragun et al. 2013). FCAS is a form of periodic fever with cold intolerance due to a defect in either of two genes, NLRPS or NLRP12 that regulate the inflammatory process (Hiragun et al. 2013).
Biologics in allergic disease
Published in Richard F. Lockey, Dennis K. Ledford, Allergens and Allergen Immunotherapy, 2020
Tara V. Saco, Farnaz Tabatabaian
Auto-inflammatory syndromes such as Schnitzler syndrome and cryopyrin-associated periodic fever syndromes (CAPSs) are often associated with urticaria. These include Muckle-Wells syndrome, neonatal-onset multisystem inflammatory disease, and familial cold autoinflammatory syndrome. They are believed to be mediated by autosomal dominant mutations in the NLRP3 gene with the subsequent production of altered cryopyrin, which induces constitutive production of IL-1b. Anti-IL-1 monoclonal antibodies are utilized in these subjects to control the urticaria and other associated manifestations of these syndromes [39,40]. The FDA-approved monoclonal options for different types of urticaria include omalizumab, canakinumab, anakinra, and rilonacept.
Familial cold autoinflammatory syndrome with rheumatoid arthritis
Published in Baylor University Medical Center Proceedings, 2021
Brooke Walterscheid, Jeannie Nguyen, Swetha Gadwala, Goutam Shome, Michelle Tarbox, James A. Tarbox
Autoinflammatory syndromes present as recurrent, febrile episodes accompanied by various cutaneous, mucosal, serosal, and osteoarticular manifestations. Familial cold autoinflammatory syndrome (FCAS) is a cryopyrin-associated periodic syndrome caused by an overproduction of cytokines due to defects in inflammasomes1; it typically presents in infancy with episodic fever, skin rash, and joint pain after exposure to cold temperatures. FCAS is rare, with only 1 to 2 cases per million in the USA, and is caused by an autosomal dominant mutation in the NLRP3 gene at 1q44, leading to an overproduction of interleukin-1β by inflammasomes.2–4 Here, we discuss both FCAS and its even rarer associations with autoimmune disorders, including rheumatoid arthritis (RA) and amyloidosis.
Disease modeling of immunological disorders using induced pluripotent stem cells
Published in Immunological Medicine, 2018
Autoinflammatory syndrome is defined as disorders associated with dysregulation of the innate immune systems [6]. In typical cases, patients with autoinflammatory syndrome show various inflammatory symptoms, including periodic fever, skin rash and sterile serositis [7,8]. PSC models of autoinflammatory syndrome are attractive, because (1) most typical autoinflammatory disorders are monogenic, (2) the responsible cells are usually innate immune cells, which can be robustly differentiated from PSCs, and (3) there is a high demand for better therapeutics and diagnostics. In this review, we introduce our strategy for modeling immunological disorders using human PSCs with special attention on autoinflammatory disorders and application of these models to the identification of the genetic and biological backgrounds of the patients’ pathophysiology.
Ocular Involvement in Muckle-Wells Syndrome
Published in Ocular Immunology and Inflammation, 2020
Sukru Cekic, Ozgur Yalcinbayir, Sara Sebnem Kilic
The autoinflammatory syndromes are rare inherited disorders which are present with recurrent attacks of multi-systemic inflammation due to mutations of genes regulating the innate immune system. Diverse ocular manifestations have been reported in those autoinflammatory diseases including the cryopyrin associated periodic syndrome (CAPS), familial mediterranean fever, tumor necrosis factor receptor-1 associated periodic syndrome, hyper-immunoglobulin D syndrome, and Blau syndrome.1,2