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
378 published sources across all rare disease profiles, each with evidence grades and key findings.
378 total sourcesGrade A: 76Grade B: 205Grade C: 87Grade 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
Efficacy and safety of benralizumab in CRSwNP (OSTRO): randomised, placebo-controlled, phase 3 trial
Bachert C, Han JK, Wagenmann M, et al. · Lancet · 2024
Neutrophil extracellular traps and neutrophilic dermatosis: updated review
Li S, et al. · Cell Death Discov · 2024
Eosinophil contribution to tissue remodelling in CRSwNP
Takeda K, et al. · Front Immunol · 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)
Lopez-Gonzalez M, et al. · Actas Dermosifiliogr · 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
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
Modern look at Schnitzler syndrome
Kanabaj K, et al. · Acta Dermatovenerol Croat · 2024
Canakinumab for anakinra-intolerant Schnitzler syndrome
Kolivras A, 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
Schnitzler and Schnitzler-like syndromes review
Qiao J, Yao Q · Clin Rheumatol · 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
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
Adult-Onset Still's Disease: molecular pathophysiology and new therapeutic approaches
Sfriso P, Bindoli S, Galozzi P, et al. · Int J Mol Sci · 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
Systemic Mastocytosis: Molecular Landscape and Implications for Treatment
Chatterjee A, Ghosh J, Bhatt N · Cancers · 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
Ibrutinib in Schnitzler syndrome: a case report
Claves FP, et al. · 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
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
Genetic risk factors for CRSwNP: IL-33/ST2 and TSLP pathway variants
Portelli MA, et al. · J Allergy Clin Immunol · 2020
Biologics for chronic rhinosinusitis with nasal polyps
Bachert C, et al. · J Allergy Clin Immunol · 2020
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
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
Adult-onset Still's disease
Fautrel B, Mitrovic S · Presse Med · 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
HLA associations in chronic rhinosinusitis
Oakley GM, et al. · Int Forum Allergy Rhinol · 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
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
Epigenomic profiling of nasal polyp tissue reveals type 2 inflammation signatures
Cardenas A, et al. · J Allergy Clin Immunol · 2019
The GALEN/GA2LEN survey: global CRSwNP burden and unmet need
Khan A, et al. · Allergy · 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
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. · Clin Exp Rheumatol · 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
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
First reported Schnitzler case with MYD88 L265P mutation
Bashir M, et al. · JAAD Case Rep · 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
Anakinra as first-line treatment policy
NHS England · NHS England · 2018
B-cell clonality and DPP10 as IgM autoantigen in Schnitzler syndrome
Pathak S, et al. · Immunology · 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
32-gene sequencing study
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
Ibrutinib for the management of Schnitzler syndrome: a case report
Jani P, et al. · J Med Case Rep · 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
IL-1-blocking therapy in colchicine-resistant familial Mediterranean fever
Kucuksahin O, et al. · Clin Exp Rheumatol · 2018
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
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Familial Hibernian fever
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
Bardwick PA, Zvaifler NJ, Gill GN, Newman D, Greenway GD, Resnick DL · Medicine (Baltimore) · 1980
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