IgA λ-type Schnitzler syndrome with edema and numbness
Hiroyasu S, Fukumoto K, Nakashima Y, Akaji T, Itoh Y, Tsuruta D · J Dermatol · 2026
Published Sources & References
374 published sources across all rare disease profiles, each with evidence grades and key findings.
374 total sourcesGrade A: 76Grade B: 203Grade C: 85Grade D: 10
Monoclonal gammopathies of cutaneous significance: A nomenclature and pathophysiology-based classification.
Mir TH, Patell R, Freed JA · J Am Acad Dermatol · 2026
Mice humanized by syntenic replacement with full-length NLRP3 disease-associated variants model the clinical cryopyrinopathy continuum
Snouwaert JN, Nguyen M, Gabel CA, Aksentijevich I, Ting JP, Koller BH · JCI Insight · 2026
The NLRP3 Inflammasome: Mechanisms of Activation, Regulation, and Therapeutic Opportunities
Zou C, Jiang S, Li H, Zhao K, Cao D, Yang G · MedComm · 2026
Type 2 inflammation promotes distinct metabolic profiles in chronic rhinosinusitis with nasal polyps
Yonaga T, Ishii H, Yoshimura K, Shimamura A, Sakamoto K, Matsuoka T, Sakurai D · Rhinology · 2026
Landscape of somatic mutations in a large cohort of Chinese patients with immune dysregulations
Fu J, Fu Q, Wang J, et al. · Arthritis Rheumatol · 2026
Mepolizumab in chronic rhinosinusitis with severe nasal polyposis: Real-life Spanish cohort study
Toro PC, Fors MG, Ríos AL, Agodino IC, Muñoz LP, Lluch CG, González-Compta X · Acta Otorrinolaringol Esp (Engl Ed) · 2026
Dual clinical remission in patients treated with biologics for severe asthma and eosinophilic chronic rhinosinusitis
Takahashi N, Kojima A, Numata T, et al. · Allergol Int · 2026
Clinical effectiveness and safety of anakinra in an octogenarian patient with Schnitzler Syndrome
Santaniello U, Borriello S, Cavaliere G, Brizio MG, Ribero S, Quaglino P · Ital J Dermatol Venerol · 2026
Outcomes of Maximal Conventional Therapy Before Biological Treatment in Recurrent Chronic Rhinosinusitis With Nasal Polyps
Topan YE, Bayar Muluk N, Yavuz R, Alataş N, Cingi C · J Craniofac Surg · 2026
Global incidence and prevalence of chronic rhinosinusitis: a systematic review
Min JY, et al. · Clin Exp Allergy · 2025
Background and Clinical Features of a Unique and Mysterious Autoinflammatory Disease, Schnitzler Syndrome
Műzes G, Sipos F · Int J Mol Sci · 2025
Prevalence and incidence of mastocytosis in adults: a Danish nationwide register study
Severino MK, Broesby-Olsen S, Vestergaard H, et al. · BMC Cancer · 2025
First reported Schnitzler syndrome cases in Iran
Aminianfar M, et al. · J Cutan Immunol Allergy · 2025
Somatic NLRP3 mosaicism in patients with 'mutation-negative' CAPS: insights from a single centre UK cohort
Melo Gomes S, Arostegui JI, Rowczenio DM, et al. · Front Pediatr · 2025
Acquired autoinflammatory disorders: a dermatologist's perspective.
Bishnoi A, Sharma A, Baskaran N, Mehta H, Chatterjee D, Vinay K · Clin Exp Dermatol · 2025
Bortezomib in Schnitzler syndrome without detectable IL-1β
Bai H, Zhou D, Liu J, He J, Min Z, Fan W, Chen B, Xu Y · Front Immunol · 2025
WM: 2025 update on diagnosis, risk stratification, and management
Gertz MA · Am J Hematol · 2025
Systemic autoinflammatory disease diagnoses in a single year from a UK national referral centre.
Caterson HC, Papadopoulou C, Peet C, Lachmann HJ · Rheumatology (Oxford) · 2025
Familial Mediterranean Fever; Recent Advances, Future Prospectives
Recent Advances Group · Diagnostics · 2025
EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update
Ozen S, Batu ED, Demir S, et al. · Ann Rheum Dis · 2025
Neutrophilic Urticarial Dermatosis: A Window into Systemic Inflammation and Autoimmune Disorders.
Cai X, Zheng Y, Yang C, Xu J, Fang H, Qiao J · Clin Rev Allergy Immunol · 2025
Neutrophils predominate as IL1B-expressing cells in Schnitzler syndrome: Insights from the SCan study
Kambe N, Inoue M, et al. · Allergol Int · 2025
A case of Schnitzler syndrome complicated by rheumatoid arthritis treated with methotrexate
Irino K, Kochi Y, et al. · Mod Rheumatol Case Rep · 2025
Treatment and long-term follow-up of pediatric patients with hypocomplementemic urticarial vasculitis syndrome (HUVS): a case-based review
Özen Taş, Aydın F, Özçakar ZB · Clin Rheumatol · 2025
Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders
Daskalopoulou A, Assrawi E, et al. · Br J Dermatol · 2025
Differential Diagnosis of Chronic Spontaneous Urticaria.
Gialama D, Bonnekoh H, Rothermel ND, Oldenburg R, Khan DA, Hoffman HM, Lang D, Kolkhir P · J Allergy Clin Immunol Pract · 2025
Schnitzler syndrome without monoclonal gammopathy: a systematic review and case presentation
Zhu C, Martinez-Jaramillo E, Ben Shoshan M, Netchiporouk E, Chergui M, Fein M · Clin Exp Dermatol · 2025
Tinea labialis in a patient with Schnitzler syndrome on interleukin-1 receptor antagonist.
Mooney N, Grewal A, Pei S, Bogner P, Kuraitis D · JAAD Case Rep · 2025
Paraprotein-Negative IL-1-Mediated Inflammatory Dermatosis: An Update on Schnitzler-Like Syndrome
Ahmad S, Dunne G, et al. · JID Innovations · 2025
IL-1 targeting agents in Schnitzler syndrome: a multicentre, real-world study from the international AIDA Network
Calabrese L, Cartocci A, et al. · Clin Exp Rheumatol · 2025
[What is an undifferentiated systemic autoinflammatory disease in adults? Current state of knowledge and practical approach].
Mertz P, Chauffier J, Delplanque M · Rev Med Interne · 2025
Letter to the editor - "Re: Tinea labialis in a patient with Schnitzler syndrome on interleukin-1 receptor antagonist".
Velusamy B, Pincelli T, Sokumbi O · JAAD Case Rep · 2025
Clinical and laboratory markers to distinguish VEXAS from Schnitzler syndrome: data from the AIDA network registries
Caggiano V, Sbalchiero G, et al. · Front Med · 2025
Canakinumab as effective therapy in anakinra-refractory Schnitzler syndrome: a case-based review
De Santos Belinchón S, Ausín García C, et al. · Intern Med J · 2025
IL-4/IL-13 pathway in nasal type 2 inflammation: the central role and targeted therapy
Zhu Y, et al. · Eye ENT Res · 2024
Most recent comprehensive review
Braud A, Lipsker D · Biomolecules · 2024
IgG kappa variant of Schnitzler syndrome
Singh G, et al. · Cureus · 2024
Tocilizumab open-label study: initial response with loss of efficacy
Néel A, et al. · Medicine · 2024
Osteoporosis in Systemic Mastocytosis: A Scoping Review
Rossini M, Adami S, Zanotti R · Medicina · 2024
Neutrophilic epitheliotropism in Japanese Schnitzler syndrome cases
Nakaizumi H, et al. · J Dermatol · 2024
Schnitzler syndrome IgG-kappa variant with MEFV p.(Glu148Gln)
Nicolás-Sánchez FJ, et al. · Actas Dermosifiliogr · 2024
Efficacy and safety of benralizumab in chronic rhinosinusitis with nasal polyps: A randomized, placebo-controlled trial.
Bachert C, Han JK, Wagenmann M, et al. · Lancet · 2024
Long-term efficacy and safety of canakinumab in patients with TRAPS: results from a phase III trial
Gattorno M, Obici L, Calvo Penadés I, Kallinich T, Benseler S, Dekker E, Lévy J, De Benedetti F, Lachmann H · Arthritis Rheumatol · 2024
Ibrutinib and venetoclax as primary therapy in symptomatic, treatment-naive WM
Castillo JJ, et al. · Blood · 2024
The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity
Putnam CD, Broderick L, Bhatt DL, Hoffman HM · Immunol Rev · 2024
Neutrophil extracellular traps and neutrophilic dermatosis: an update
Li S, et al. · Cell Death Discov · 2024
How I use genomics and BTK inhibitors in the treatment of WM
Treon SP, et al. · Blood · 2024
Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β production
Molina-López C, Hurtado-Navarro L, García-Castañeda A, et al. · Nat Commun · 2024
Epidemiology of mastocytosis: a population-based study (Sweden)
Ungerstedt J, Ljung C, Engstrom-Laurent A · Acta Oncologica · 2024
WM: State-of-the-Art Review Part 1 - Epidemiology, Pathogenesis, Clinical
Bibas M, et al. · Mediterr J Hematol Infect Dis · 2024
Pathophysiology and treatments of complications of WM
Patel N, et al. · Clin Hematol Int · 2024
Inflammatory and homeostatic roles of eosinophil subpopulations in chronic rhinosinusitis with nasal polyp pathogenesis.
Simmalee K, et al. · Front Immunol · 2024
Modern look at Schnitzler syndrome
Kanabaj K, et al. · Acta Dermatovenerol Croat · 2024
Canakinumab for anakinra-intolerant Schnitzler syndrome
Salcedo-Mingoarranz AL, et al. · J Dermatol Treat · 2023
Diagnostics in WM: consensus statement of the European Consortium for WM
Dogliotti I, et al. · Leukemia · 2023
WM: 2023 update on diagnosis, risk stratification, and management
Gertz MA · Am J Hematol · 2023
Bendamustine plus rituximab for treatment of WM: patient outcomes and impact of dosing
Castillo JJ, et al. · Am J Hematol · 2023
Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management
Pardanani A · Am J Hematol · 2023
Zanubrutinib vs Ibrutinib in Symptomatic WM: Final Analysis From the ASPEN Study
Tam CS, et al. · J Clin Oncol · 2023
Hypocomplementemic urticarial vasculitis syndrome: a look beyond urticarial lesions
Bettuzzi T, et al. · Rheumatol Int · 2023
POEMS syndrome: Update on diagnosis, risk-stratification, and management
Dispenzieri A · Am J Hematol · 2023
KIT Mutations and Other Genetic Defects in Mastocytosis
Chantran Y, Valent P, Arock M · Immunol Allergy Clin North Am · 2023
Efficacy and safety of anti-interleukin-1 treatment in familial Mediterranean fever patients: a systematic review and meta-analysis
Grattagliano V, et al. · Clin Exp Rheumatol · 2023
Avapritinib versus Placebo in Indolent Systemic Mastocytosis
Gotlib J, Castells M, Engelbrecht ME, et al. · NEJM Evidence · 2023
NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: from cryopyrin function to targeted therapies
Moltrasio C, Romagnuolo M, Marzano AV · Front Immunol · 2022
Adult-Onset Still's Disease: Molecular Pathophysiology and Therapeutic Advances.
Sfriso P, Bindoli S, Galozzi P, et al. · Int J Mol Sci · 2022
Ibrutinib Plus Rituximab vs Placebo Plus Rituximab for WM: Final iNNOVATE Analysis
Dimopoulos MA, et al. · J Clin Oncol · 2022
Diagnosis and management of WM: BSH guideline
D'Sa S, et al. · Br J Haematol · 2022
Schnitzler syndrome and Schnitzler-like syndromes.
Qiao J, Yao Q · Clin Rheumatol · 2022
Interventions for reducing inflammation in familial Mediterranean fever
Cochrane Collaboration · Cochrane Database Syst Rev · 2022
Urticarial vasculitis: Clinical and laboratory findings with a particular emphasis on differential diagnosis
Marzano AV, Maronese CA, Genovese G, Ferrucci S, Moltrasio C, Asero R, Cugno M · J Allergy Clin Immunol · 2022
Ibrutinib for MYD88 L265P-positive Schnitzler
Huang Y, et al. · Front Immunol · 2022
Treatment of Indolent and Advanced Systemic Mastocytosis
Castells M, Butterfield J · J Allergy Clin Immunol Pract · 2022
Cryo-sensitive aggregation triggers NLRP3 inflammasome assembly in cryopyrin-associated periodic syndrome
Karasawa T, Komada T, Yamada N, et al. · eLife · 2022
Efficacy and safety of avapritinib in previously treated patients with advanced systemic mastocytosis.
DeAngelo DJ, Radia DH, George TI, et al. · Blood · 2022
Unraveling unique features of plasma cell clones in POEMS syndrome with single-cell analysis
Isshiki T, Yaguchi T, Okuyama Y, et al. · JCI Insight · 2022
Safety and efficacy of avapritinib in advanced systemic mastocytosis: the phase 1 EXPLORER trial
Reiter A, George TI, Engelbrecht ME, et al. · Nat Med · 2021
Schnitzler-like syndrome without gammopathy: imaging and canakinumab response
Terpos E, et al. · Rheumatology · 2021
Diagnosis and management of the cryopyrin-associated periodic syndromes (CAPS): what do we know today?
Welzel T, Kuemmerle-Deschner JB · J Clin Med · 2021
Schnitzler syndrome transformation to Waldenström's macroglobulinemia
Adam Z, et al. · Vnitr Lek · 2021
INSAID variant classification and Eurofever criteria guide optimal treatment strategy in patients with TRAPS: data from the Eurofever Registry
Papa R, Lane T, Minden K, Touitou I, Cantarini L, Cattalini M, Obici L, et al. · J Allergy Clin Immunol Pract · 2021
A highly heterogeneous mutational pattern in POEMS syndrome
Chen J, Gao XM, Zhao H, et al. · Leukemia · 2021
CXCR4 in Waldenström's Macroglobulinemia: chances and challenges
Buske C, et al. · Leukemia · 2021
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management
Pardanani A · Am J Hematol · 2021
Adult-onset Still's disease: clinical aspects and therapeutic approach
Tomaras S, Goetzke CC, Kallinich T, Feist E · J Clin Med · 2021
Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review
Delaleu J, Deshayes S, Rodrigues F, Savey L, Rivière E, Martin Silva N, Aouba A, Amselem S, Rabant M, Grateau G, Giurgea I, Georgin-Lavialle S · Rheumatology (Oxford) · 2021
Dramatic ibrutinib efficacy in Schnitzler syndrome with indolent lymphoma
Claves F, et al. · J Clin Immunol · 2021
Mepolizumab for CRSwNP (SYNAPSE): a randomised, double-blind, placebo-controlled, phase 3 trial
Han JK, Bachert C, Fokkens W, et al. · Lancet Respir Med · 2021
POEMS syndrome: 2021 Update on diagnosis, risk-stratification, and management
Dispenzieri A · Am J Hematol · 2021
Long-term safety and effectiveness of canakinumab in CAPS: results from the β-Confident Registry
Kuemmerle-Deschner JB, Ramos E, Engel K, et al. · RMD Open · 2021
Adult-onset Still's disease in focus: clinical manifestations, diagnosis, treatment, and unmet needs in the era of targeted therapies
Efthimiou P, Kontzias A, Hur P, et al. · Semin Arthritis Rheum · 2021
Systemic Mastocytosis: Molecular Landscape and Implications for Treatment.
Chatterjee A, Ghosh J, Bhatt N · Cancers · 2021
Bortezomib plus dexamethasone as first-line therapy for patients with POEMS syndrome
He H, Zhao D, Jiang H, et al. · Ann Hematol · 2021
Update in familial Mediterranean fever
Ozen S · Curr Opin Rheumatol · 2021
Neutrophil-specific gain-of-function mutations in Nlrp3 promote development of cryopyrin-associated periodic syndrome
Broderick L, Hoffman HM · J Exp Med · 2021
Canakinumab is effective in patients with familial Mediterranean fever resistant and intolerant to colchicine and/or anakinra treatment
Cetin P, et al. · Int J Rheum Dis · 2021
Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal
Valent P, Akin C, Hartmann K, et al. · HemaSphere · 2021
EPOS 2020: endotype-based severity and treatment of CRSwNP
Bachert C, et al. · Rhinology · 2020
Long-term outcomes of endoscopic sinus surgery for CRSwNP
Hopkins C, et al. · Laryngoscope · 2020
B-cell clonality and DPP10 as IgM autoantigen in Schnitzler syndrome
Pathak S, et al. · Front Immunol · 2020
HLA-DRB1, -DQA1, and -DQB1 genotypes in patients with nasal polyposis.
Molnar-Gabor E, et al. · Int Forum Allergy Rhinol · 2020
Immunopathogenesis of Chronic Rhinosinusitis and Nasal Polyposis.
Schleimer RP, et al. · J Allergy Clin Immunol · 2020
Mast cells as a unique hematopoietic lineage and cell system: From Paul Ehrlich's visions to precision medicine concepts
Valent P · Theranostics · 2020
European Position Paper on Rhinosinusitis and Nasal Polyps 2020 (EPOS 2020)
Fokkens WJ, et al. · Rhinology · 2020
Biologics for chronic rhinosinusitis with nasal polyps.
Bachert C, et al. · J Allergy Clin Immunol · 2020
Immunoglobulin variable domain high-throughput sequencing reveals specific novel mutational patterns in POEMS syndrome
Abe D, Sakaue T, Kamata T, et al. · Blood · 2020
Systemic Mastocytosis: Following the Tyrosine Kinase Inhibition Roadmap
Frost MJ, Ferrao PT, Hughes TP, Ashman LK · Front Pharmacol · 2020
Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives
Cudrici C, Bhattacharya S, Bhattacharya M · Int J Mol Sci · 2020
Canakinumab for treatment of adult-onset Still's disease to achieve reduction of arthritic manifestation (CONSIDER): phase II, randomised, double-blind, placebo-controlled trial
Kedor C, Listing J, Zernicke J, et al. · Ann Rheum Dis · 2020
Efficacy and safety of omalizumab in nasal polyposis: POLYP 1 and POLYP 2 trials
Gevaert P, Omachi TA, Corren J, et al. · J Allergy Clin Immunol · 2020
Role of colchicine treatment in tumor necrosis factor receptor associated periodic syndrome (TRAPS): real-life data from the AIDA Network
Rigante D, Vitale A, Lucherini OM, Cattalini M, Lopalco G, Piga M, et al. · Mediators Inflamm · 2020
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis
Park YH, et al. · Nat Immunol · 2020
Incidence, prevalence, mortality, and causes of death in WM: nationwide population-based cohort study
Jeong SH, et al. · Blood Adv · 2020
A randomized phase 3 trial of zanubrutinib vs ibrutinib in symptomatic WM: the ASPEN study
Tam CS, et al. · Blood · 2020
Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
Alghamdi M · Turk J Med Sci · 2020
Clinical features at onset and genetic characterization of pediatric and adult patients with TRAPS: a series of 80 cases from the AIDA Network
Gaggiano C, Vitale A, Obici L, Merlini G, Soriano A, Viapiana O, Cattalini M, Maggio MC, Lopalco G, Montin D, et al. · Mediators Inflamm · 2020
CCL2 elevation in Schnitzler syndrome: mononuclear cell recruitment
Krause K, et al. · Br J Dermatol · 2019
Epithelial barrier genes SPINK5 and PCDH1 in CRSwNP susceptibility
Kowalski ML, et al. · Allergy · 2019
IL-1 family cytokine profiling in Schnitzler syndrome
Migliorini P, et al. · Scand J Rheumatol · 2019
PBMC studies: spontaneous IL-1β release
Regnault V, et al. · Scand J Rheumatol · 2019
Prevalence and Course of Endocrinopathy in POEMS Syndrome
Caimari F, Keddie S, Lunn MP, et al. · J Clin Endocrinol Metab · 2019
Treatment of urticarial vasculitis: A systematic review
Hamid R, et al. · J Allergy Clin Immunol · 2019
Aspirin desensitisation in AERD: outcomes and protocols
Laidlaw TM, et al. · J Allergy Clin Immunol Pract · 2019
Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management
Pardanani A · Am J Hematol · 2019
Genetic and transcriptional landscape of plasma cells in POEMS syndrome
Nagao Y, Mimura N, Takeda J, et al. · Leukemia · 2019
What is the best first-line treatment for POEMS syndrome: autologous transplantation, melphalan and dexamethasone, or lenalidomide and dexamethasone?
Zhao H, Cai H, Wang C, et al. · Am J Hematol · 2019
Comparative study of interleukin-18 serum levels in adult onset Still's disease and systemic onset juvenile idiopathic arthritis
Inoue N, Shimizu M, Tsunoda S, et al. · BMC Immunol · 2019
NETosis in Schnitzler syndrome
Bonnekoh H, et al. · Front Immunol · 2019
Single-cell analysis reveals the KIT D816V mutation in haematopoietic stem and progenitor cells in systemic mastocytosis.
Hoermann G, Gleixner KV, Dinu GE, et al. · eBioMedicine · 2019
Managing adult-onset Still's disease: the effectiveness of high-dosage of corticosteroids as first-line treatment
Ruscitti P, Cipriani P, Liakouli V, et al. · Medicine (Baltimore) · 2019
Schnitzler syndrome associated with MYD88 L265P mutation.
Bashir M, et al. · JAAD Case Rep · 2019
Long-term retention rate of anakinra in adult onset Still's disease and predictive factors for treatment response
Vitale A, Cavalli G, Ruscitti P, et al. · Front Pharmacol · 2019
POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management
Dispenzieri A · Am J Hematol · 2019
Classification criteria for autoinflammatory recurrent fevers (Eurofever/PRINTO)
Gattorno M, Hofer M, Federici S, et al. · Ann Rheum Dis · 2019
CAPS and NLRP3
Booshehri LM, Hoffman HM · J Clin Immunol · 2019
A revised international prognostic score system for WM
Kastritis E, et al. · Leukemia · 2019
Shared MYD88/NF-κB mechanism hypothesis
Van Leersum FS, et al. · Orphanet J Rare Dis · 2019
Familial Mediterranean Fever (FMF): a single centre retrospective study in Amsterdam
Lidar M, Yaqubov M, Giat E, et al. · Rheumatol Int · 2019
CXCR4 mutation subtypes impact response and survival outcomes in ibrutinib-treated WM
Castillo JJ, et al. · Br J Haematol · 2019
MYD88 L265P in 30% of Schnitzler patients
Pathak S, et al. · Arthritis Rheumatol · 2019
CXCR4 mutations affect presentation and outcomes in patients with WM: a systematic review
Castillo JJ, et al. · Expert Rev Hematol · 2019
Prevalence, clinical profiles, and prognosis of POEMS syndrome in Japanese nationwide survey
Suichi T, Misawa S, Sato Y, et al. · Neurology · 2019
The pyrin inflammasome in health and disease
Schnappauf O, Chae JJ, Kastner DL, Aksentijevich I · Front Immunol · 2019
Efficacy and safety of dupilumab in patients with severe CRSwNP (LIBERTY NP SINUS-24 and SINUS-52)
Bachert C, Han JK, Desrosiers M, et al. · Lancet · 2019
Pathogenesis, disease course, and prognosis of adult-onset Still's disease: an update and review
Wang MY, Jia JC, Yang CD, Hu QY · Chin Med J · 2019
Genomewide epigenetic study shows significant DNA hypermethylation in chronic rhinosinusitis versus control ethmoidal tissue.
Brar T, et al. · J Allergy Clin Immunol · 2019
Anakinra as first-line treatment policy
NHS England · NHS England · 2018
Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial
DeAngelo DJ, George TI, Hirshberg B, et al. · Leukemia · 2018
Validation of the Fautrel classification criteria for adult-onset Still's disease
Fautrel B, Stand A, Golmard JL, et al. · Semin Arthritis Rheum · 2018
Function and mechanism of the pyrin inflammasome
Heilig R, Broz P · Eur J Immunol · 2018
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes
Sigrist S, Stand A, Gerfaud-Valentin M, et al. · Rheumatology · 2018
Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.
Rowczenio DM, et al. · Blood · 2018
OLT1177, a β-sulfonyl nitrile compound, safe in humans, inhibits the NLRP3 inflammasome and reverses the metabolic cost of inflammation
Marchetti C, Swartzwelter B, Gamboni F, et al. · Proc Natl Acad Sci USA · 2018
Lack of clear and univocal genotype-phenotype correlation in familial Mediterranean fever patients: a systematic review
Shinar Y, Obici L, Gattorno M, et al. · Rheumatology (Oxford) · 2018
Open-label, multicentre, dose-escalating phase II clinical trial on the safety and efficacy of tadekinig alfa (IL-18BP) in adult-onset Still's disease
Gabay C, Fautrel B, Rech J, et al. · Ann Rheum Dis · 2018
Ibrutinib for Schnitzler syndrome with concurrent hematologic malignancy
Jani P, et al. · J Oncol Pract · 2018
A prospective phase II study of low dose lenalidomide plus dexamethasone in patients with newly diagnosed POEMS syndrome
He H, Zhao D, Jiang H, et al. · Am J Hematol · 2018
Complications of adult-onset Still's disease and their management
Efthimiou P, Kadavath S, Engel B · Expert Rev Clin Immunol · 2018
Canakinumab for the treatment of autoinflammatory recurrent fever syndromes
De Benedetti F, Gattorno M, Anton J, Ben-Chetrit E, Frenkel J, Hoffman HM, Kone-Paut I, Lachmann HJ, Ozen S, et al. · N Engl J Med · 2018
Phase 3 Trial of Ibrutinib plus Rituximab in WM (iNNOVATE)
Dimopoulos MA, et al. · N Engl J Med · 2018
Ibrutinib Monotherapy in Symptomatic, Treatment-Naive Patients With WM
Treon SP, et al. · J Clin Oncol · 2018
A comprehensive review on adult onset Still's disease
Giacomelli R, Ruscitti P, Shoenfeld Y · J Autoimmun · 2018
FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis
Gotlib J, Reiter A, DeAngelo DJ · Oncologist · 2018
POEMS syndrome
Keddie S, Lunn MP · Curr Opin Neurol · 2018
Raised VEGF: High sensitivity and specificity in the diagnosis of POEMS syndrome
Pihan M, Keddie S, D'Sa S, et al. · Neurol Neuroimmunol Neuroinflamm · 2018
Mechanisms, biomarkers and targets for adult-onset Still's disease
Feist E, Mitrovic S, Fautrel B · Nat Rev Rheumatol · 2018
Tocilizumab in patients with adult-onset Still's disease refractory to glucocorticoid treatment: a randomised, double-blind, placebo-controlled phase III trial
Kaneko Y, Kameda H, Ikeda K, et al. · Ann Rheum Dis · 2018
Insights into the genomic landscape of MYD88 wild-type WM
Treon SP, et al. · Blood · 2018
IL1-blocking therapy in colchicine-resistant familial Mediterranean fever.
Kucuksahin O, et al. · Clin Exp Rheumatol · 2018
Randomized placebo-controlled trial of canakinumab in Schnitzler syndrome
Krause K, et al. · J Allergy Clin Immunol · 2017
Canakinumab treatment for patients with active recurrent or chronic TRAPS: an open-label, phase II study
Gattorno M, Obici L, et al. · Ann Rheum Dis · 2017
Validation of diagnostic criteria
Gusdorf L, et al. · Allergy · 2017
Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)
Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, et al. · Ann Rheum Dis · 2017
Anakinra for colchicine-resistant familial Mediterranean fever: a randomized, double-blind, placebo-controlled trial
Ben-Zvi I, Kukuy O, Giat E, et al. · Arthritis Rheumatol · 2017
Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts
Valent P, Akin C, Metcalfe DD · Blood · 2017
Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future
Valent P, Akin C, Hartmann K, et al. · Cancer Res · 2017
Disease phenotype and outcome depending on age at disease onset in patients carrying the R92Q low-penetrance variant in TNFRSF1A gene
Ruiz-Ortiz E, Iglesias E, Soriano A, Zaragoza-Garcia O, Arostegui JI, Espada G, Merino R, Cattalini M, Obici L, Antón J · Front Immunol · 2017
Elevated expression of the NLRP3 inflammasome and its correlation with disease activity in adult-onset Still disease
Chen DY, Lan JL, Lin FJ, Hsieh TY · J Rheumatol · 2017
Familial Mediterranean fever, review of the literature
Alghamdi M · Clin Rheumatol · 2017
Diagnostic criteria, IL-1 centrality, lymphoproliferative risk on therapy
Lipsker D · Curr Rheumatol Rep · 2017
Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still's disease
Asano T, Furukawa H, Sato S, et al. · Arthritis Res Ther · 2017
Macrophage activation syndrome in patients affected by adult-onset Still disease: analysis of survival rate and its causes of death
Ruscitti P, Iacono D, Ciccia F, et al. · Medicine · 2017
Imatinib in systemic mastocytosis: a phase IV clinical trial in patients lacking exon 17 KIT mutations
Akin C, Fumo G, Yavuz AS, et al. · Haematologica · 2017
Late-onset cryopyrin-associated periodic syndromes caused by somatic NLRP3 mosaicism — UK single center experience
Rowczenio DM, Gomes SM, Arostegui JI, et al. · Front Immunol · 2017
A case of hypocomplementemic urticarial vasculitis syndrome successfully treated with omalizumab
Nucera E, Basta F, Buonomo A, Mezzacappa S, Margiotta D, Antonelli Incalzi R, Schiavino D · J Investig Allergol Clin Immunol · 2017
Chronic infantile neurological cutaneous and articular (CINCA) syndrome: a review
Finetti M, Omenetti A, Federici S, et al. · Orphanet J Rare Dis · 2016
Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V+ advanced systemic mastocytosis
Jawhar M, Schwaab J, Schnittger S, et al. · Leukemia · 2016
Performance of different diagnostic criteria for familial Mediterranean fever in children with periodic fevers
Demirkaya E, Saglam C, Turker T, et al. · J Rheumatol · 2016
ASXL1 and CBL mutations are independently predictive of inferior survival in advanced systemic mastocytosis
Pardanani A, Lasho TL, Finke CM, et al. · Br J Haematol · 2016
Risk factors for and outcomes of patients with POEMS syndrome who experience progression after first-line treatment
Kourelis TV, Buadi FK, Kumar SK, et al. · Am J Hematol · 2016
Macrophage activation syndrome complicating adult onset Still's disease: a single center case series and comparison with literature
Lenert A, Yao Q · Semin Arthritis Rheum · 2016
Efficacy and safety of treatments in familial Mediterranean fever: a systematic review
Demirkaya E, Erer B, Ozen S, Ben-Chetrit E · Rheumatol Int · 2016
EULAR recommendations for the management of familial Mediterranean fever
Ozen S, Demirkaya E, Erer B, et al. · Ann Rheum Dis · 2016
Aspirin-exacerbated respiratory disease — genetic and molecular mechanisms
Laidlaw TM, Boyce JA · N Engl J Med · 2016
Efficacy of anti-IL-1 treatment in familial Mediterranean fever: a systematic review of the literature
van der Hilst JCH, Moutschen M, Breitscheidel L, et al. · Biologics · 2016
NLRP3 A439V mutation in a large family with cryopyrin-associated periodic syndrome
Kuemmerle-Deschner JB, Verma D, Grom AA, et al. · J Rheumatol · 2016
Long-term safety profile of anakinra in patients with severe cryopyrin-associated periodic syndromes
Kullenberg T, Löfqvist M, Leinonen M, et al. · Rheumatology · 2016
Clinical characterization and long-term follow-up of Schnitzler syndrome
Gameiro A, et al. · Clin Exp Dermatol · 2016
Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS
Park YH, Wood G, Kastner DL, Chae JJ · Nat Immunol · 2016
Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis
Gotlib J, Kluin-Nelemans HC, George TI, et al. · N Engl J Med · 2016
Clinical characteristics of CRSwNP in the United States
Stevens WW, et al. · J Allergy Clin Immunol Pract · 2016
Risk of solid cancer, cardiovascular disease, anaphylaxis, osteoporosis and fractures in patients with systemic mastocytosis: a nationwide population-based study
Lim KH, Tefferi A, Lasho TL, et al. · Am J Hematol · 2016
Safety and efficacy of thalidomide in patients with POEMS syndrome: a multicentre, randomised, double-blind, placebo-controlled trial
Misawa S, Sato Y, Katayama K, et al. · Lancet Neurol · 2016
Elevated serum levels of free interleukin-18 in adult-onset Still's disease
Girard C, Rech J, Brown M, et al. · Rheumatology · 2016
Cryopyrin-associated periodic syndrome in Australian children and adults: epidemiological, clinical and treatment characteristics
Mehr S, Allen R, Boros C, et al. · J Paediatr Child Health · 2016
Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation.
Van Gorp H, Sber P, Van Hauwermeiren F, et al. · Proc Natl Acad Sci USA · 2016
Quality of life burden in CRSwNP: SNOT-22 and disease impact
Rudmik L, et al. · Rhinology · 2015
Dramatic anakinra response after 10-year refractory disease
Vanderschueren S, et al. · J Am Acad Dermatol · 2015
Phenotypic and genotypic characteristics of CAPS: a series of 136 patients from the Eurofever Registry
Levy R, Gerard L, Kuemmerle-Deschner J, et al. · Ann Rheum Dis · 2015
NLRP3 somatic mosaicism in variant Schnitzler
de Koning HD, et al. · J Allergy Clin Immunol · 2015
The clinical spectrum and therapeutic management of hypocomplementemic urticarial vasculitis: data from a French nationwide study of fifty-seven patients
Jachiet M, Flageul B, Deroux A, Le Quellec A, Maurier F, Cordoliani F, et al. · Arthritis Rheumatol · 2015
Efficacy and safety of low-dose lenalidomide plus dexamethasone in patients with relapsed or refractory POEMS syndrome
Li J, Zhang W, Jiao L, et al. · Eur J Haematol · 2015
Overall survival and competing risks of death in patients with WM
Castillo JJ, et al. · Cancer · 2015
Treatment of adult-onset Still's disease: a review.
Jamilloux Y, Gerfaud-Valentin M, Henry T, Seve P · Ther Clin Risk Manag · 2015
Ibrutinib in Previously Treated Waldenström's Macroglobulinemia
Treon SP, et al. · N Engl J Med · 2015
CAPS—pathogenesis, presentation and treatment of an autoinflammatory disease
Kuemmerle-Deschner JB · Semin Immunopathol · 2015
How I treat Waldenström macroglobulinemia.
Treon SP · Blood · 2015
IL-1β centrality via canakinumab trial
de Koning HD, et al. · Arthritis Res Ther · 2015
Endotype-driven care pathways in patients with chronic rhinosinusitis.
Bachert C, Zhang N, Hellings PW, Bousquet J · J Allergy Clin Immunol · 2015
The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
Lachmann HJ, Papa R, Gerhold K, Obici L, Touitou I, Cantarini L, Frenkel J, Anton J, Kone-Paut I, Cattalini M, Bader-Meunier B, Insalaco A, et al. · Ann Rheum Dis · 2014
A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin
Ozen S, Bilginer Y · Nat Rev Rheumatol · 2014
Bone imaging findings (22 patients)
Niederhauser BD, et al. · Skeletal Radiol · 2014
Adult-onset Still's disease
Gerfaud-Valentin M, Jamilloux Y, Iwaz J, Seve P · Autoimmun Rev · 2014
Czech multicenter anakinra study (6 patients)
Szturz P, et al. · Ann Rheum Dis · 2014
Epidemiology, prognosis, and risk factors in mastocytosis
Brockow K · Immunol Allergy Clin North Am · 2014
Multicenter anakinra study (29 patients, France)
Néel A, et al. · Autoimmun Rev · 2014
Comprehensive review (281 cases)
de Koning HD · Clin Transl Allergy · 2014
Familial Mediterranean fever: An updated review.
Sari I, Birlik M, Kasifoglu T · Eur J Rheumatol · 2014
Under-diagnosis at Mayo Clinic
Jain T, et al. · Am J Med · 2013
2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides
Jennette JC, Falk RJ, Bacon PA, Basu N, Cid MC, et al. · Arthritis Rheum · 2013
Canakinumab efficacy (9-month trial)
de Koning HD, et al. · Ann Rheum Dis · 2013
Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in WM and related lymphoid neoplasms
Varettoni M, et al. · Blood · 2013
Hearing loss in Muckle-Wells syndrome
Kuemmerle-Deschner JB, Koitschev A, Ummenhofer K, et al. · Arthritis Rheum · 2013
Ambiguous effects of anti-VEGF monoclonal antibody (bevacizumab) for POEMS syndrome
Kanai K, Kuwabara S, Misawa S, Hattori T · J Neurol · 2013
Strasbourg criteria for Schnitzler syndrome
Simon A, et al. · Allergy · 2013
MYD88 L265P mutation in Waldenstrom macroglobulinemia
Poulain S, et al. · Blood · 2013
Cutaneous manifestations in patients with POEMS syndrome
Shi X, Luo Y, Zhang L, et al. · Am J Med · 2013
DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome
Özçakar ZB, Foster J 2nd, Diaz-Horta O, Kasapcopur O, Fan YS, Yalçınkaya F, Tekin M · Arthritis Rheum · 2013
Thymic stromal lymphopoietin activity is increased in nasal polyps of patients with chronic rhinosinusitis.
Nagarkar DR, et al. · J Allergy Clin Immunol · 2013
Outcomes of patients with POEMS syndrome treated initially with radiation
Humeniuk MS, Gertz MA, Lacy MQ, et al. · Blood · 2013
Divergence of IL-1, IL-18, and cell death in NLRP3 inflammasomopathies
Brydges SD, Broderick L, McGeough MD, et al. · J Clin Invest · 2013
Staphylococcus aureus enterotoxins as immune stimulants in CRSwNP
Bachert C, et al. · Allergy · 2012
Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome (TRAPS): a prospective, open-label, dose-escalation study
Hull KM, Kastner DL, Balow JE · Arthritis Rheum · 2012
Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing
Izawa K, Hijikata A, Tanaka N, et al. · J Mol Diagn · 2012
Sustained response and prevention of damage progression in patients with NOMID treated with anakinra: 3- and 5-year outcomes
Sibley CH, Plass N, Snow J, et al. · Arthritis Rheum · 2012
Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study
Cantarini L, Lucherini OM, Brucato A, Barone L, Cumetti D, Iacoponi F, Rigante D, et al. · Clin Res Cardiol · 2012
Hypocomplementemic urticarial vasculitis syndrome: a case report and literature review
Buck A, Christensen J, McCarty M · J Clin Aesthet Dermatol · 2012
Different neurological and physiological profiles in POEMS syndrome and chronic inflammatory demyelinating polyneuropathy
Nasu S, Misawa S, Sekiguchi Y, et al. · J Neurol Sci · 2012
Uniform demyelination and more severe axonal loss distinguish POEMS syndrome from CIDP
Mauermann ML, Sorenson EJ, Dispenzieri A, et al. · J Neurol Neurosurg Psychiatry · 2012
Ferritin in adult-onset Still's disease: just a useful innocent bystander?
Colafrancesco S, Priori R, Valesini G, et al. · Int J Inflam · 2012
Rilonacept (IL-1 decoy receptor) efficacy in Schnitzler syndrome
Krause K, et al. · Allergy · 2012
Long-term outcomes after autologous stem cell transplantation for patients with POEMS syndrome (osteosclerotic myeloma): a single-center experience
D'Souza A, Lacy M, Gertz M, et al. · Blood · 2012
Clinico-histopathologic review of Schnitzler syndrome at Mayo Clinic
Sokumbi O, et al. · J Am Acad Dermatol · 2012
IL-18 Serum Level in Adult Onset Still's Disease: A Marker of Disease Activity
Colafrancesco S, Priori R, Alessandri C, et al. · Int J Inflam · 2012
Markedly upregulated serum interleukin-12 as a novel biomarker in POEMS syndrome
Kanai K, Kuwabara S, Misawa S, Hattori T · Neurology · 2012
Treating inflammation by blocking interleukin-1 in a broad spectrum of diseases
Dinarello CA, Simon A, van der Meer JWM · Nat Rev Drug Discov · 2012
Beneficial effect of interleukin 1 inhibition with anakinra in adult-onset Still's disease: an open, randomized, multicenter study
Nordstrom D, Knight A, Luukkainen R, et al. · J Rheumatol · 2012
MYD88 L265P Somatic Mutation in Waldenström's Macroglobulinemia
Treon SP, et al. · N Engl J Med · 2012
The association of TNFRSF1A gene and MEFV gene mutations with adult onset Still's disease
Wouters JM, Reekers P, van de Putte LB · Clin Exp Rheumatol · 2012
Current status of understanding the pathogenesis and management of patients with NOMID/CINCA
Goldbach-Mansky R · Curr Rheumatol Rep · 2011
Anakinra case series and Schnitzler syndrome review
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Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France
Cuisset L, Jeru I, Duber B, et al. · Ann Rheum Dis · 2011
Favourable and sustained response to anakinra in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with or without AA amyloidosis
Gattorno M, et al. · Ann Rheum Dis · 2011
Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome: assessment of outcomes following treatment with the anti-interleukin-6 receptor monoclonal antibody tocilizumab
Lane T, Loeffler JM, Rowczenio DM, Gilbertson JA, Bybee A, Russell TL, Gillmore JD, Wechalekar AD, Hawkins PN, Lachmann HJ · Arthritis Rheum · 2011
Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene
Pelagatti MA, Meini A, Caorsi R, Cattalini M, Federici S, Zulian F, Calcagno G, Tommasini A, Bossi G, Gattorno M · Arthritis Rheum · 2011
Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)
Bulua AC, Simon A, Maddipati R, Pelletier M, Park H, Kim KY, Sack MN, Kastner DL, Siegel RM · J Exp Med · 2011
Combination of melphalan and dexamethasone for patients with newly diagnosed POEMS syndrome
Li J, Zhou DB, Huang Z, et al. · Blood · 2011
What causes WM: genetic or immune-related factors, or a combination?
Kristinsson SY, et al. · Clin Lymphoma Myeloma Leuk · 2011
Cryopyrinopathies: otolaryngologic and audiologic manifestations
Kone-Paut I, Piram M · Otolaryngol Clin North Am · 2011
Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1beta activation and severe autoinflammation in mice
Chae JJ, Cho YH, Lee GS, et al. · Immunity · 2011
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome
Tanaka N, Izawa K, Saito MK, et al. · Arthritis Rheum · 2011
Two-year results from a Phase III study evaluating canakinumab across CAPS phenotypes
Kuemmerle-Deschner JB, Hachulla E, Cartwright R, et al. · Ann Rheum Dis · 2011
The utility of plasma vascular endothelial growth factor levels in the diagnosis and follow-up of patients with POEMS syndrome
D'Souza A, Hayman SR, Buadi F, et al. · Blood · 2011
Sustained remission of symptoms and improved health-related quality of life in patients with CAPS treated with canakinumab
Koné-Paut I, Lachmann HJ, Kuemmerle-Deschner JB, et al. · Arthritis Res Ther · 2011
Anakinra success after failed rituximab: 12-month follow-up
Dybowski F, et al. · Clin Exp Rheumatol · 2010
Serum calprotectin as a marker for disease activity and severity in adult-onset Still's disease
Jung JY, Kim MY, Suh CH, Kim HA · J Rheumatol · 2010
Differential characteristics of WM according to patterns of familial aggregation
Royer RH, et al. · Blood · 2010
Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1β secretion
Tassi S, Carta S, Delfino L, et al. · Proc Natl Acad Sci USA · 2010
Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome
Simon A, Park H, Maddipati R, Lobito AA, Bulua AC, Jackson AJ, Chae JJ, Ettinger R, de Koning HD, Cruz AC, Kastner DL, Komarow H, Siegel RM · Proc Natl Acad Sci USA · 2010
Schnitzler syndrome as paradigm of acquired autoinflammatory disease
Lipsker D · Orphanet J Rare Dis · 2010
Phase II study of imatinib mesylate as therapy for patients with systemic mastocytosis
Lim KH, Pardanani A, Butterfield JH, et al. · Blood · 2009
A new set of criteria for the diagnosis of familial Mediterranean fever in childhood
Yalcinkaya F, Ozen S, Ozcakar ZB, et al. · Rheumatology (Oxford) · 2009
International prognostic scoring system for Waldenström macroglobulinemia
Morel P, et al. · Blood · 2009
WM: hyperviscosity syndrome and cryoglobulinemia
Stone MJ · Clin Lymphoma Myeloma · 2009
Use of canakinumab in the cryopyrin-associated periodic syndrome
Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, et al. · N Engl J Med · 2009
Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity
Brydges SD, Mueller JL, McGeough MD, et al. · Immunity · 2009
Hypocomplementemic urticarial vasculitis syndrome
Jara LJ, Navarro C, Medina G, Vera-Lastra O, Saavedra MA · Curr Rheumatol Rep · 2009
Hypocomplementemic urticarial vasculitis syndrome: an interdisciplinary challenge
Grotz W, Baba HA, Becker JU, Baumgärtel MW · Dtsch Arztebl Int · 2009
First observation of relapse under continuous anakinra therapy
Schuster C, et al. · Int J Dermatol · 2009
Gastrointestinal manifestations of systemic mastocytosis
Jensen B, Raithel M, Hahn EG · World J Gastroenterol · 2008
Cryopyrin-associated periodic syndromes and autoinflammation
Shinkai K, McCalmont TH, Leslie KS · Clin Exp Dermatol · 2008
Adult-onset Still's disease: pathogenesis, clinical manifestations and therapeutic advances
Kontzias A, Efthimiou P · Drugs · 2008
Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome
Gattorno M, Pelagatti MA, Meini A, Obici L, Barcellona R, Federici S, Buoncompagni A, Plebani A, Merlini G, Martini A · Arthritis Rheum · 2008
Restrictive usage of monoclonal immunoglobulin lambda light chain germline in POEMS syndrome
Abe D, Nakaseko C, Takeuchi M, et al. · Blood · 2008
Successful anakinra for refractory Schnitzler syndrome
Dybowski F, et al. · Clin Exp Rheumatol · 2008
Efficacy and safety of rilonacept in CAPS: results from two sequential placebo-controlled studies
Hoffman HM, Throne ML, Amar NJ, et al. · Arthritis Rheum · 2008
Adult-onset Still disease
Fautrel B · Best Pract Res Clin Rheumatol · 2008
Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)
Hill SC, Namde M, Engel A, et al. · Pediatr Radiol · 2007
Rituximab failure vs anakinra success in same patient
Eiling E, et al. · J Am Acad Dermatol · 2007
Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria
Valent P, Akin C, Escribano L, et al. · Eur J Clin Invest · 2007
Landmark systematic review (94 patients)
de Koning HD, et al. · Semin Arthritis Rheum · 2007
Endocrinopathy in POEMS syndrome: the Mayo Clinic experience
Gandhi GY, Basu R, Dispenzieri A, Basu A, Montori VM, Brennan MD · Mayo Clin Proc · 2007
Pefloxacin treatment in Schnitzler syndrome
Asli B, et al. · Arch Dermatol · 2007
Anakinra efficacy in 3 patients; thalidomide comparison
de Koning HD, et al. · Ann Rheum Dis · 2006
Diagnosis and management of adult onset Still's disease
Efthimiou P, Paik PK, Bielory L · Ann Rheum Dis · 2006
Three-year radiological follow-up of Schnitzler syndrome
Bertrand A, et al. · Skeletal Radiol · 2006
Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TRAPS
Lobito AA, Kimberley FC, Muppidi JR, Komarow H, Jackson AJ, Hull KM, Kastner DL, Screaton GR, Siegel RM · Blood · 2006
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition
Goldbach-Mansky R, Dailey NJ, Canna SW, et al. · N Engl J Med · 2006
Superantigens and nasal polyps.
Bachert C, et al. · Am J Respir Crit Care Med · 2005
Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study
Tunca M, Akar S, Onen F, et al. · Medicine (Baltimore) · 2005
First successful anakinra treatment
Martinez-Taboada VM, et al. · Arthritis Rheum · 2005
Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome.
Saito M, Fujisawa A, Nishikomori R, et al. · Arthritis Rheum · 2005
Oncogenic Kit controls neoplastic mast cell growth through a Stat5/PI3-kinase signaling cascade.
Growney JD, Clark JJ, Adelsperger J, et al. · Blood · 2005
POEMS syndrome: definitions and long-term outcome.
Dispenzieri A, Kyle RA, Lacy MQ, et al. · Blood · 2003
Thalidomide complete remission in Schnitzler syndrome
Worm M, Kolde G · Br J Dermatol · 2003
Developing diagnostic criteria in Waldenstrom's macroglobulinemia
Owen RG, et al. · Semin Oncol · 2003
Rhinitis and asthma: evidence for respiratory system integration
Togias A · J Allergy Clin Immunol · 2003
Interleukin-1-receptor antagonist in the Muckle-Wells syndrome
Hawkins PN, Lachmann HJ, McDermott MF · N Engl J Med · 2003
Familial Mediterranean fever and renal AA amyloidosis — phenotype-genotype correlation, treatment and prognosis
Ben-Chetrit E, Levy M · J Nephrol · 2003
The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever
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Proposal for a new set of classification criteria for adult-onset still disease
Fautrel B, Zing E, Golmard JL, et al. · Medicine (Baltimore) · 2002
Serum tryptase levels in patients with mastocytosis: correlation with mast cell burden and implication for defining the category of disease
Akin C, Metcalfe DD · Int Arch Allergy Immunol · 2002
Patterns of nerve conduction abnormalities in POEMS syndrome
Sung JY, Kuwabara S, Ogawara K, Kanai K, Hattori T · Muscle Nerve · 2002
Urticarial vasculitis
Venzor J, Lee WL, Huston DP · Clin Rev Allergy Immunol · 2002
The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder
Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, Powell RJ, Kastner DL · Medicine (Baltimore) · 2002
Association between adult-onset Still's disease and interleukin-18 gene polymorphisms
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De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with NOMID
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Lipsker diagnostic criteria for Schnitzler syndrome
Lipsker D, et al. · Medicine · 2001
Diagnostic value of ferritin and glycosylated ferritin in adult onset Still's disease
Fautrel B, Le Moel G, Saint-Marcoux B, et al. · J Rheumatol · 2001
Diagnostic criteria and classification of mastocytosis: a consensus proposal
Valent P, Horny HP, Escribano L, et al. · Leuk Res · 2001
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
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The spectrum of familial Mediterranean fever (FMF) mutations
Touitou I · Eur J Hum Genet · 2001
WM: development of diagnostic criteria and identification of prognostic factors
Owen RG, et al. · Am J Clin Pathol · 2001
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD · Nat Genet · 2001
MRI features of bone involvement in Schnitzler syndrome
Lecouvet FE, et al. · AJR Am J Roentgenol · 2000
Mycophenolate mofetil is effective for maintenance therapy of hypocomplementaemic urticarial vasculitis
Worm M, Sterry W, Kolde G · Br J Dermatol · 2000
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, et al. · Cell · 1999
Linkage of familial Hibernian fever to chromosome 12p13
McDermott MF, Ogunkolade BW, McDermott EM, Jones LC, Wan Y, Quane KA, McCarthy J, Phelan M, Molloy MG, Powell RJ, Amos CI, Hitman GA · Am J Hum Genet · 1998
Clinicopathologic correlation of hypocomplementemic and normocomplementemic urticarial vasculitis
Davis MD, Daoud MS, Kirby B, Gibson LE, Rogers RS 3rd · J Am Acad Dermatol · 1998
Hypocomplementaemic urticarial vasculitis: successful treatment with cyclophosphamide-dexamethasone pulse therapy
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A candidate gene for familial Mediterranean fever
French FMF Consortium · Nature Genetics · 1997
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
International FMF Consortium · Cell · 1997
Criteria for the diagnosis of familial Mediterranean fever
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Sustained dapsone-induced remission of hypocomplementemic urticarial vasculitis--a case report
Eiser AR, Singh P, Shanies HM · Angiology · 1997
Overproduction of proinflammatory cytokines imbalanced by their antagonists in POEMS syndrome
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Hypocomplementemic urticarial vasculitis syndrome. Clinical and serologic findings in 18 patients
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Original Schnitzler patient: fatal WM after 20 years
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Hypocomplementemic urticarial vasculitis syndrome, Jaccoud's syndrome, valvulopathy: a new syndromic combination
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Comparison of autoantibodies to the collagen-like region of C1q in hypocomplementemic urticarial vasculitis syndrome and systemic lupus erythematosus
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Urticarial vasculitis: a histopathologic and clinical review of 72 cases
Mehregan DR, Hall MJ, Gibson LE · J Am Acad Dermatol · 1992
Preliminary criteria for classification of adult Still's disease
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Serum IgG antibodies to C1q in hypocomplementemic urticarial vasculitis syndrome
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Adult-onset Still's disease: clinical course and outcome
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Adult-onset Still's disease: disease course and HLA associations
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The hypocomplementemic urticarial-vasculitis syndrome: therapeutic response to hydroxychloroquine
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Hypocomplementemic urticarial vasculitis: association with chronic obstructive pulmonary disease
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Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ · Q J Med · 1982
Plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes: the POEMS syndrome
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Nasal polyps in asthma and rhinitis: prevalence study
Settipane GA, Chafee FH · J Allergy Clin Immunol · 1977
A controlled trial of colchicine in preventing attacks of familial Mediterranean fever
Zemer D, Revach M, Pras M, et al. · N Engl J Med · 1974
Colchicine therapy for familial Mediterranean fever: a double-blind trial
Dinarello CA, Wolff SM, Goldfinger SE, et al. · N Engl J Med · 1974
Prophylactic colchicine therapy in familial Mediterranean fever: a controlled, double-blind study
Goldstein RC, Schwabe AD · Ann Intern Med · 1974
Hypocomplementemia with cutaneous vasculitis and arthritis. Possible immune complex syndrome
McDuffie FC, Sams WM Jr, Maldonado JE, Andreini PH, Conn DL, Samayoa EA · Mayo Clin Proc · 1973
Still's disease in the adult
Bywaters EG · Ann Rheum Dis · 1971
Urticaria, deafness and amyloidosis: a new heredo-familial syndrome
Muckle TJ, Wells M · Q J Med · 1962
A case of cold urticaria with an unusual family history
Kile RL, Rusk HA · JAMA · 1940