"Muckle–Wells syndrome"

Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature. Cryopyrin-associated periodic syndrome (CAPS), a rare genetic autoimmune disease, is composed of familial cold autoinflammatory syndrome (FCAs), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID). MWS is caused by dominantly inherited

Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the literature Muckle-Wells syndrome (MWS) is a rare auto-inflammatory disease characterized by the presence of recurrent urticaria, deafness and amyloidosis. Progressive sensorineural hearing loss (SNHL) is reported

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and Muckle-Wells syndrome who :247587343G>A, respectively). mutations are associated in an autosomal dominant manner with clinically overlapping auto-inflammatory conditions including Muckle-Wells syndrome. The p.Arg490Lys is a known pathogenic mutation inherited from the patient's father. The p.Val200Met mutation, inherited from his mother, is a variant of unknown significance (VUS). Whether the mutation is responsible for or plays

A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin (IL)-1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. CAPS is associated with gain-of-function missense mutations in NOD-like receptor family pyrin domain-containing protein 3 (NLRP3), the gene encoding NLRP3. Moreover, most mutations leading to MWS occurred

Early detection of sensorineural hearing loss in Muckle-Wells-syndrome. Muckle-Wells-syndrome (MWS) is an autoinflammatory disease characterized by systemic and organ-specific inflammation due to excessive interleukin (IL)-1 release. Inner ear inflammation results in irreversible sensorineural hearing loss, if untreated. Early recognition and therapy may prevent deafness. The aims of the study

Challenges in diagnosing Muckle-Wells syndrome: identifying two distinct phenotypes. The diagnosis of Muckle-Wells syndrome (MWS) remains challenging due to the clinical heterogeneity and lack of diagnostic criteria. The aims of this study were to describe key elements of the diagnostic evaluation process in MWS and compare identified variables between patients diagnosed in childhood

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. : Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome are dominantly inherited autoinflammatory diseases associated to gain-of-function NLRP3 mutations

, adolescents and children aged 2 years and older: Cryopyrin-associated periodic syndromes Ilaris is indicated for the treatment of cryopyrin-associated periodic syndromes (CAPS) including: * Muckle-Wells syndrome (MWS), * Neonatal-onset multisystem inflammatory disease (NOMID) / chronic infantile neurological, cutaneous, articular syndrome (CINCA), * Severe forms of familial cold autoinflammatory syndrome

syndrome, Muckle-Wells syndrome and neonatal-onset multisystem inflammatory disease.6. Based on the clinical experience of the expert committee’s members, IVIgs can, however, be considered in patients with inclusion body myositis who have severe dysphagia.7. IVIg may be considered in the event of failure, contraindication or intolerance to the other therapeutic options.8. IVIg may be considered

syndrome * Bullous pemphigoid * Mastocytosis * Urticarial vasculitis * Transfusion reactions * Serum sickness * Cold-induced urticaria, Muckle-Wells syndrome, neonatal multi-system inflammatory diseaseFull detailsLog in or subscribe to access all of BMJ Best PracticeContributorsAuthorsVIEW ALLMarilyn Li, MDAssistant Professor of Clinical Pediatrics, Clinician EducatorDirector, Quality Improvement

syndrome * Bullous pemphigoid * Mastocytosis * Urticarial vasculitis * Transfusion reactions * Serum sickness * Cold-induced urticaria, Muckle-Wells syndrome, neonatal multi-system inflammatory diseaseFull detailsLog in or subscribe to access all of BMJ Best PracticeContributorsAuthorsVIEW ALLMarilyn Li, MDAssistant Professor of Clinical Pediatrics, Clinician EducatorDirector, Quality Improvement

- Wells- Syndrome; NOMID, Neonatal Onset Multisystem Inflammatory Disease; NSAID, Non- steroidal anti- inflammatory drugs; PAF, Platelet- activating factor; PET, Positron Emission Tomography; PICO, Technique used in Evidence- based Medicine, acronym stands for Patient/Problem/Population, Intervention, Comparison/Control/Comparator, Outcome; PROM, Patient- reported outcome measure; REM, Rapid eye and Clinical Immunology; EDF, European Dermatology Forum; EtD, Evidence- to- Decision; FCAS, Familial Cold Autoinflammatory Syndrome; GA2LEN, Global Asthma and Allergy European Network; GDT, Guideline Development Tool; GRADE, Grading of Recommendations Assessment, Development and Evaluation; HAE, Hereditary angioedema; HIDS, Hyper- IgD syndrome; IVIG (also IGIV), Intravenous immunoglobulins; MWS, Muckle

, chronic granulomatous disease (CGD) Defects of innate immunity Innate immune system IRAK-4 and MyD88 deficiencies, WHIM syndrome, TLR3 and UNC93B1 deficiencies, chronic mucocutaneous candidiasis Autoinflammatory disorders Cytokine overproduction Familial Mediterranean fever, Hyper-IgD syndrome, Muckle-Wells syndrome, familial cold autoinflammatory syndrome Complement immunodeficiencies Complement

] Until more data become available, canakinumab injection should be used with caution during breastfeeding, especially while nursing a newborn or preterm infant. Waiting for at least 2 weeks postpartum to resume therapy may minimize transfer to the infant.[2] Topical or homeopathic preparations pose little risk to the nursing infant.Drug LevelsMaternal Levels. A patient with Muckle-Wells syndrome weeks during pregnancy. A breast milk sample taken day 4 postpartum (14 days after the last injection), found no detectable canakinumab (<0.5 mcg/mL).[4]Infant Levels. A patient with Muckle-Wells syndrome received canakinumab 150 mg subcutaneously on day 10 postpartum to treat a worsening of her disease. Although the infant was born with a level of 1.33 mg/L in cord blood from 2 maternal doses given

to show efficacy for numerous dermatologic conditions, with the strongest evidence for hidradenitis suppurativa, Bechet's disease, Muckle-Wells syndrome, and SAPHO syndrome. Case reports and case series data are available for numerous other dermatologic conditions. Anakinra is a potential option for patients with certain difficult-to-treat dermatologic diseases, given its relatively benign adverse

histocompatibility complex. It is associated with chronic kidney diasease.Cryopyrin-associated periodic syndrome-associated amyloidosis (CAPS) includes familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). Patients with CAPS have chronically elevated levels of acute-phase reactants, especially high-sensitivity C-reactive protein

exposure to animals, recent moves, hobbies, travel, or the presence of a similar skin condition in other members of the household.Urticaria is a feature of some autoinflammatory diseases, such as Muckle-Wells syndrome (characterized by amyloidosis, nerve deafness, and urticaria) and Schnitzler syndrome [21] (characterized by fever, joint or bone pain, monoclonal gammopathy, and urticaria).Little evidence

control in vivo and IL-1β release from cells of patients with Muckle-Wells syndrome were impaired by ibrutinib. Notably, IL-1β processing and release from immune cells isolated from patients with cancer receiving ibrutinib therapy were reduced. Our data suggest that XLA might result in part from genetic inflammasome deficiency and that NLRP3 inflammasome-linked inflammation could potentially be targeted -Wells syndrome; BTK mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA). However, to date, few proteins that regulate NLRP3 inflammasome activity in human primary immune cells have been identified, and clinically promising pharmacologic targeting strategies remain elusive. We sought to identify novel regulators of the NLRP3 inflammasome in human cells with a view