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Waldenström Macroglobulinemia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Extramedullary infiltration by LPL cells commonly results in lymphadenopathy and splenomegaly, which are seen in approximately 20%–25% of patients [57]. While LPL cells can infiltrate other organs, such as kidney and lung, such manifestations are unusual and are seen in less than 4% of patients. Unlike MM, osteolytic lesions are rare (<2%) and raise the suspicion for an alternative diagnosis, such as IgM MM [57]. Bing−Neel syndrome, a rare complication of WM, is caused by the direct invasion of the central nervous system by the LPL cells [63,68]. Schnitzler syndrome, an uncommon disease characterized by an IgM monoclonal gammopathy, chronic urticarial rash, and inflammatory symptoms, has been described in association with WM [69]. Upregulation of the IL-1 pathway plays a pivotal role in the pathophysiology of Schnitzler syndrome [70,71].
Biologics in allergic disease
Published in Richard F. Lockey, Dennis K. Ledford, Allergens and Allergen Immunotherapy, 2020
Tara V. Saco, Farnaz Tabatabaian
The three FDA-approved IL-1 antagonists for CAPSs-associated urticaria include canakinumab, a humanized anti-IL-1β monoclonal antibody; anakinra, a recombinant human IL-1Rα antagonist; and rilonacept, a soluble decoy receptor that blocks IL-1β. Data from small studies using anakinra and canakinumab in Schnitzler syndrome subjects is favorable. Further studies are underway to examine the utility of using anti-IL-1 monoclonal antibodies for CU.
Schnitzler syndrome refractory to anakinra: successful treatment with canakinumab
Published in Journal of Dermatological Treatment, 2023
Angel Luis Salcedo-Mingoarranz, María Dorado-Fernández, Sofía García-Martínez, Paz Collado-Ramos, Nicolás Silvestre-Torner
Schnitzler syndrome (SchS) is a rare disorder first described by the French dermatologist Liliane Schnitzler in 1972, where IL-1β plays a key role in its pathophysiology. According to the Strasbourg criteria, recurrent monoclonal gammopathy and chronic urticarial rash are the required symptoms for diagnosis (1). Colchicine, peflacine, corticosteroids and ibuprofen have some efficacy in SchS, although anakinra, an interleukin-1 receptor antagonist, is the most effective treatment (1,2). Recent studies have been developed to evaluate the effectiveness of canakinumab, a specific anti-interleukin-1 beta antibody, however, there is no comparative study between anakinra and canakinumab in SchS (3–5). We report the case of a 64-year-old woman with diagnosis of SchS successfully treated with canakinumab after failure of colchicine, prednisone, methotrexate, dapsone and anakinra.
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review
Published in Critical Reviews in Clinical Laboratory Sciences, 2018
Marielle Labrousse, Charlotte Kevorkian-Verguet, Guilaine Boursier, Dorota Rowczenio, François Maurier, Estibaliz Lazaro, Manjari Aggarwal, Irène Lemelle, Thibault Mura, Alexandre Belot, Isabelle Touitou, Guillaume Sarrabay
Supplementary Table 1 shows extensive demographic, clinical and genetic data for all known individuals with NLRP3 mosaicism: 49 patients and one asymptomatic carrier mother described in the literature and four unpublished cases recruited in France. We sorted the patients by phenotype when the information was available. Indeed, the clinical boundaries between the three classical phenotypes FCAS, MWS and CINCA are blurred, and geneticists often prefer the global definition of CAPS, which reflects the pathophysiology of the disease rather than the phenotype. We found no records for FCAS. Supplementary Table 1 also describes two patients diagnosed with Schnitzler syndrome, a rare systemic AID characterized by chronic neutrophilic urticaria and a monoclonal IgM component. De Koning et al. suggested that these two patients had a variant of CAPS [28].
Off-Label studies on anakinra in dermatology: a review
Published in Journal of Dermatological Treatment, 2022
Kyle Tegtmeyer, Giancarlo Atassi, Jeffrey Zhao, Nolan J. Maloney, Peter A. Lio
Schnitzler Syndrome is a rare autoinflammatory acquired syndrome, first described properly in 1972, that is characterized primarily by an urticarial rash, monoclonal gammopathy (of IgG or IgM type), bone and/or joint pain, lymphadenopathy, and febrile episodes. It is sometimes (15–20% of cases) complicated by a lymphoproliferative disorder, and rarely by AA amyloidosis if left untreated. The pathophysiology is unclear, but IL-1 appears to play a key role and as such the mainstay of treatment is inhibition of IL-1 (47). There are a number of case series and case reports available, many of which describe successful treatment of Schnitzler Syndrome with anakinra, described in Table 3.