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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.
Phagocytic cells and their functions
Published in Gabriel Virella, Medical Immunology, 2019
Gabriel Virella, John W. Sleasman
Muckle–Wells syndrome usually is a disease of later onset. The affected patients have similar symptoms as those seen in CAPS, but conjunctivitis and uveitis are more frequent, and sensorineural deafness and potentially life-threatening amyloidosis may also develop.
Systemic Physical Condition
Published in A. Sahib El-Radhi, Paediatric Symptom and Sign Sorter, 2019
Periodic fever (PF) and relapsing fever (ReF) are characterized by episodes of fever recurring at regular or irregular intervals; each episode is followed by one to several days, weeks or months of normal temperature. Examples are seen in malaria, brucellosis, familial Mediterranean fever (FMF) and PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis). ReF is recurrent fever caused by numerous species of Borrelia and transmitted by lice (louse-borne ReF) or ticks (tick-borne ReF). Familial cold urticaria syndrome (FCUS), Muckle–Wells syndrome (MWS), TNF-receptor associated periodic syndrome (TRAPS) and hyperimmunoglobulinemia D syndrome (HIDS) are also characterized by recurrent episodes of fever but they are rare compared with FMF.
Ocular Involvement in Muckle-Wells Syndrome
Published in Ocular Immunology and Inflammation, 2020
Sukru Cekic, Ozgur Yalcinbayir, Sara Sebnem Kilic
CAPS is a rare example of these autoinflammatory syndromes which has an estimated frequency of 1 to 3 in a million.3–6 Each year, approximately 2–7 new patients under the age of 16 are diagnosed with CAPS in Germany; however, the relevant epidemiological data are not available for Turkey.7 It is associated with autosomal dominant inheritance of genetic gain-of-function mutations in the nucleotide-binding oligomerization domain (NOD)-like receptor P3 (NLRP3) gene also known as the cold-induced autoinflammatory syndrome 1 (CIAS1) gene that encodes cryopyrin.3 Overproduction of interleukin-1 (IL-1) leads to inflammatory symptoms including periodic fever and rash. Clinically, CAPS appears in three phenotypes: familial cold autoinflammatory syndrome (FCAS) the modest form, Muckle-Wells syndrome (MWS) as the intermediate type, and neonatal-onset multisystem inflammatory disease (NOMID) being the most severe form. MWS is characterized by sensorineural deafness, recurrent hives, miscellaneous ocular findings, and increased risk of amyloidosis. Inflammatory attacks are triggered mainly with exposure to cold, stress and exercise.8 The data regarding the characteristics of ocular involvement in MWS are rather limited. Although chronic conjunctivitis is known as the most frequent ocular manifestation of MWS, several ocular findings have also been reported.9,10
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
In another open-label trial of 12 patients with severe MWS (5 children, 7 adults) treated with once-daily subcutaneous anakinra (1–2mg/kg for <40kg; 100 mg for ≥40kg), all 12 patients displayed a good response (score <10 on the MWS-DAS) at the primary endpoint of 2 weeks, and mean MWS-DAS decreased from 12.8 at baseline to 3.2 at two weeks (p = .0005). Additionally, inflammatory markers (ESR and CRP) improved from baseline in 11 of 12 patients, and patient- and physician-derived global assessments of health status improved from baseline to the primary endpoint. Long-term efficacy was based on inflammatory markers, MWS-DAS scores, and global health status assessments at the last recorded follow-up visit (median of 11 months, range of 5–14 months). 92% of patients experienced sustained disease control with a score of <10 on the MWS-DAS, though one patient experienced a disease flare at last follow-up visit; inflammatory markers remained stable at last follow-up; and global health status measures were stably improved at last follow-up. Additionally, several sequelae of MWS, such as amyloidosis, delayed puberty, and sensorineural hearing loss, had either resolved or improved with anakinra treatment by the last follow-up visit. Notably, two children required stepwise increases of anakinra to 8 mg/kg/day for disease control, and two patients’ sensorineural hearing loss worsened despite anakinra treatment. No serious adverse events were reported–the authors noted mild injection site reactions, weight gain and hyperactivity, and mild infections in several patients (13). Additional case reports on Muckle-Wells Syndrome and related conditions are discussed below.
The First Case Report of Schnitzler Syndrome Presenting with Eye Pain
Published in Ocular Immunology and Inflammation, 2020
Richard R. Sadig, D. Wakefield, CL. Fraser
The presence of the IgM paraprotein led us to believe it might have been a Waldenström’s, myeloma or lymphoma, however his other routine blood tests were not suggestive of any myeloproliferative disorder. In addition, this case was unique because it had features of urticaria, autonomic cephalgia, neuropathy and features of disc changes which are unusual in their combinations. The absence of hearing loss, amyloid deposition and familial pattern of inheritance were features against the diagnosis of Muckle-Wells syndrome.