Grade Ccase reportn=1
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
144 published sources across all rare disease profiles, each with evidence grades and key findings.
144 total sourcesGrade A: 21Grade B: 64Grade C: 52Grade D: 7
Grade Bbasic research
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
Grade Breview
The NLRP3 Inflammasome: Mechanisms of Activation, Regulation, and Therapeutic Opportunities
Zou C, Jiang S, Li H, Zhao K, Cao D, Yang G · MedComm · 2026
Grade Ccohort
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
Grade Acohortn=2912
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
Grade Bcohortn=28
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
Grade Bcohortn=67
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
Grade Dcase reportn=1
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
Grade Ccohortn=42
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
Grade Asystematic review
Global incidence and prevalence of chronic rhinosinusitis: a systematic review
Min JY, et al. · Clin Exp Allergy · 2025
Grade Ccase reportn=1
748th case: novel MEFV and F2 gene variants
Kanabaj K, et al. · Int J Mol Sci · 2025
Grade Dcase report
First reported Schnitzler syndrome cases in Iran
Aminianfar M, et al. · J Cutan Immunol Allergy · 2025
Grade Bcohort
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
Grade Dcase reportn=1
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
Grade Bcohort
Neutrophils predominate as IL1B-expressing cells in Schnitzler syndrome: Insights from the SCan study
Kambe N, Inoue M, et al. · Allergol Int · 2025
Grade Ccase reportn=1
A case of Schnitzler syndrome complicated by rheumatoid arthritis treated with methotrexate
Irino K, Kochi Y, et al. · Mod Rheumatol Case Rep · 2025
Grade Ccase series
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
Grade Bsystematic reviewn=18
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
Grade Bnarrative review
Paraprotein-Negative IL-1-Mediated Inflammatory Dermatosis: An Update on Schnitzler-Like Syndrome
Ahmad S, Dunne G, et al. · JID Innovations · 2025
Grade Bcohort
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
Grade Bcohort
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
Grade Ccase reportn=1
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
Grade Bnarrative review
IL-4/IL-13 pathway in nasal type 2 inflammation: the central role and targeted therapy
Zhu Y, et al. · Eye ENT Res · 2024
Grade ARCTn=413
Efficacy and safety of benralizumab in CRSwNP (OSTRO): randomised, placebo-controlled, phase 3 trial
Bachert C, Han JK, Wagenmann M, et al. · Lancet · 2024
Grade Cnarrative review
Neutrophil extracellular traps and neutrophilic dermatosis: updated review
Li S, et al. · Cell Death Discov · 2024
Grade Bnarrative review
Eosinophil contribution to tissue remodelling in CRSwNP
Takeda K, et al. · Front Immunol · 2024
Grade Ccohortn=9
Tocilizumab open-label study: initial response with loss of efficacy
Néel A, et al. · Medicine · 2024
Grade Ccase series
Neutrophilic epitheliotropism in Japanese Schnitzler syndrome cases
Nakaizumi H, et al. · J Dermatol · 2024
Grade Ccase reportn=1
Schnitzler syndrome IgG-kappa variant with MEFV p.(Glu148Gln)
Lopez-Gonzalez M, et al. · Actas Dermosifiliogr · 2024
Grade Breview
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
Grade Bbasic research
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
Grade Bnarrative review
Modern look at Schnitzler syndrome
Kanabaj K, et al. · Acta Dermatovenerol Croat · 2024
Grade Ccase reportn=1
Canakinumab for anakinra-intolerant Schnitzler syndrome
Kolivras A, et al. · J Dermatol Treat · 2023
Grade Creview
NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: from cryopyrin function to targeted therapies
Moltrasio C, Romagnuolo M, Marzano AV · Front Immunol · 2022
Grade Bnarrative reviewn=281
Schnitzler and Schnitzler-like syndromes review
Qiao J, Yao Q · Clin Rheumatol · 2022
Grade Ccase reportn=1
Ibrutinib for MYD88 L265P-positive Schnitzler
Huang Y, et al. · Front Immunol · 2022
Grade Bbasic research
Cryo-sensitive aggregation triggers NLRP3 inflammasome assembly in cryopyrin-associated periodic syndrome
Karasawa T, Komada T, Yamada N, et al. · eLife · 2022
Grade Ccase reportn=1
Schnitzler-like syndrome without gammopathy: imaging and canakinumab response
Terpos E, et al. · Rheumatology · 2021
Grade Breview
Diagnosis and management of the cryopyrin-associated periodic syndromes (CAPS): what do we know today?
Welzel T, Kuemmerle-Deschner JB · J Clin Med · 2021
Grade Ccase seriesn=6
Schnitzler syndrome transformation to Waldenström's macroglobulinemia
Adam Z, et al. · Vnitr Lek · 2021
Grade Ccase reportn=1
Dramatic ibrutinib efficacy in Schnitzler syndrome with indolent lymphoma
Claves F, et al. · J Clin Immunol · 2021
Grade ARCTn=407
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
Grade Bcohort
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
Grade Bbasic research
Neutrophil-specific gain-of-function mutations in Nlrp3 promote development of cryopyrin-associated periodic syndrome
Broderick L, Hoffman HM · J Exp Med · 2021
Grade BGWAS
Genetic risk factors for CRSwNP: IL-33/ST2 and TSLP pathway variants
Portelli MA, et al. · J Allergy Clin Immunol · 2020
Grade Bnarrative review
Biologics for chronic rhinosinusitis with nasal polyps
Bachert C, et al. · J Allergy Clin Immunol · 2020
Grade Bexpert opinion
EPOS 2020: endotype-based severity and treatment of CRSwNP
Bachert C, et al. · Rhinology · 2020
Grade Bcohortn=1459
Long-term outcomes of endoscopic sinus surgery for CRSwNP
Hopkins C, et al. · Laryngoscope · 2020
Grade Aclinical guideline
European Position Paper on Rhinosinusitis and Nasal Polyps 2020 (EPOS 2020)
Fokkens WJ, et al. · Rhinology · 2020
Grade BGWAS
HLA associations in chronic rhinosinusitis
Oakley GM, et al. · Int Forum Allergy Rhinol · 2020
Grade ARCTn=265
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
Grade Ccohort
Epigenomic profiling of nasal polyp tissue reveals type 2 inflammation signatures
Cardenas A, et al. · J Allergy Clin Immunol · 2019
Grade Bnarrative review
The GALEN/GA2LEN survey: global CRSwNP burden and unmet need
Khan A, et al. · Allergy · 2019
Grade Ccandidate gene
Epithelial barrier genes SPINK5 and PCDH1 in CRSwNP susceptibility
Kowalski ML, et al. · Allergy · 2019
Grade Ccohort
IL-1 family cytokine profiling in Schnitzler syndrome
Migliorini P, et al. · Scand J Rheumatol · 2019
Grade Bcohort
Aspirin desensitisation in AERD: outcomes and protocols
Laidlaw TM, et al. · J Allergy Clin Immunol Pract · 2019
Grade Ccase reportn=1
First reported Schnitzler case with MYD88 L265P mutation
Bashir M, et al. · JAAD Case Rep · 2019
Grade Acohort
Classification criteria for autoinflammatory recurrent fevers (Eurofever/PRINTO)
Gattorno M, Hofer M, Federici S, et al. · Ann Rheum Dis · 2019
Grade Cexpert opinion
Shared MYD88/NF-κB mechanism hypothesis
Van Leersum FS, et al. · Orphanet J Rare Dis · 2019
Grade Bcohortn=30
MYD88 L265P in 30% of Schnitzler patients
Pathak S, et al. · Arthritis Rheumatol · 2019
Grade ARCTn=724
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
Grade Ccohortn=10
B-cell clonality and DPP10 as IgM autoantigen in Schnitzler syndrome
Pathak S, et al. · Immunology · 2018
Grade Cbasic research
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
Grade Ccase reportn=1
Ibrutinib for Schnitzler syndrome with concurrent hematologic malignancy
Jani P, et al. · J Oncol Pract · 2018
Grade Acohort
Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)
Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, et al. · Ann Rheum Dis · 2017
Grade Bnarrative review
Diagnostic criteria, IL-1 centrality, lymphoproliferative risk on therapy
Lipsker D · Curr Rheumatol Rep · 2017
Grade Ccase series
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
Grade Creview
Chronic infantile neurological cutaneous and articular (CINCA) syndrome: a review
Finetti M, Omenetti A, Federici S, et al. · Orphanet J Rare Dis · 2016
Grade Bnarrative review
Aspirin-exacerbated respiratory disease — genetic and molecular mechanisms
Laidlaw TM, Boyce JA · N Engl J Med · 2016
Grade Ccase series
NLRP3 A439V mutation in a large family with cryopyrin-associated periodic syndrome
Kuemmerle-Deschner JB, Verma D, Grom AA, et al. · J Rheumatol · 2016
Grade Bcohortn=43
Long-term safety profile of anakinra in patients with severe cryopyrin-associated periodic syndromes
Kullenberg T, Löfqvist M, Leinonen M, et al. · Rheumatology · 2016
Grade Ccohortn=9
Clinical characterization and long-term follow-up of Schnitzler syndrome
Gameiro A, et al. · Clin Exp Dermatol · 2016
Grade Bcohort
Clinical characteristics of CRSwNP in the United States
Stevens WW, et al. · J Allergy Clin Immunol Pract · 2016
Grade Bcohort
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
Grade ARCT
Randomized placebo-controlled trial of canakinumab in Schnitzler syndrome
Krause K, et al. · Pediatr Rheumatol · 2015
Grade Bcohort
Quality of life burden in CRSwNP: SNOT-22 and disease impact
Rudmik L, et al. · Rhinology · 2015
Grade Ccase reportn=1
Dramatic anakinra response after 10-year refractory disease
Vanderschueren S, et al. · J Am Acad Dermatol · 2015
Grade Acohortn=136
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
Grade Ccase seriesn=2
NLRP3 somatic mosaicism in variant Schnitzler
de Koning HD, et al. · J Allergy Clin Immunol · 2015
Grade Bnarrative review
Endotype-driven care pathways in patients with chronic rhinosinusitis
Bachert C, Zhang N, Hellings PW, Bousquet J · J Allergy Clin Immunol · 2015
Grade Creview
CAPS—pathogenesis, presentation and treatment of an autoinflammatory disease
Kuemmerle-Deschner JB · Semin Immunopathol · 2015
Grade Bcohortn=8
IL-1β centrality via canakinumab trial
de Koning HD, et al. · Arthritis Res Ther · 2015
Grade Bcohortn=22
Bone imaging findings (22 patients)
Niederhauser BD, et al. · Skeletal Radiol · 2014
Grade Bcohortn=6
Czech multicenter anakinra study (6 patients)
Szturz P, et al. · Ann Rheum Dis · 2014
Grade Bcohortn=29
Multicenter anakinra study (29 patients, France)
Néel A, et al. · Autoimmun Rev · 2014
Grade Bnarrative reviewn=281
Comprehensive review (281 cases)
de Koning HD · Clin Transl Allergy · 2014
Grade Ccohort
CCL2 elevation in Schnitzler syndrome: mononuclear cell recruitment
Krause K, et al. · J Allergy Clin Immunol · 2013
Grade Bcohort
Hearing loss in Muckle-Wells syndrome
Kuemmerle-Deschner JB, Koitschev A, Ummenhofer K, et al. · Arthritis Rheum · 2013
Grade Bcohort
Airway epithelial alarmins in CRSwNP: IL-33, IL-25, and TSLP
Nagarkar DR, et al. · J Allergy Clin Immunol · 2013
Grade Abasic research
Divergence of IL-1, IL-18, and cell death in NLRP3 inflammasomopathies
Brydges SD, Broderick L, McGeough MD, et al. · J Clin Invest · 2013
Grade Bcohort
Staphylococcus aureus enterotoxins as immune stimulants in CRSwNP
Bachert C, et al. · Allergy · 2012
Grade Cbasic research
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
Grade Acohortn=26
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
Grade Ccohort
Rilonacept (IL-1 decoy receptor) efficacy in Schnitzler syndrome
Krause K, et al. · Allergy · 2012
Grade Bcohort
Clinico-histopathologic review of Schnitzler syndrome at Mayo Clinic
Sokumbi O, et al. · J Am Acad Dermatol · 2012
Grade Breview
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
Grade Creview
Current status of understanding the pathogenesis and management of patients with NOMID/CINCA
Goldbach-Mansky R · Curr Rheumatol Rep · 2011
Grade Ccase seriesn=3
Anakinra case series and Schnitzler syndrome review
Gran JT, et al. · Scand J Rheumatol · 2011
Grade Bcohort
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
Grade Bcohortn=57
Cryopyrinopathies: otolaryngologic and audiologic manifestations
Kone-Paut I, Piram M · Otolaryngol Clin North Am · 2011
Grade Bcohort
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
Grade ARCTn=166
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
Grade ARCT
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
Grade Ccase reportn=1
Anakinra success after failed rituximab: 12-month follow-up
Dybowski F, et al. · Clin Exp Rheumatol · 2010
Grade Bbasic research
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
Grade Bnarrative review
Schnitzler syndrome as paradigm of acquired autoinflammatory disease
Lipsker D · Orphanet J Rare Dis · 2010
Grade ARCTn=35
Use of canakinumab in the cryopyrin-associated periodic syndrome
Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, et al. · N Engl J Med · 2009
Grade Abasic research
Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity
Brydges SD, Mueller JL, McGeough MD, et al. · Immunity · 2009
Grade Ccase seriesn=2
First observation of relapse under continuous anakinra therapy
Schuster C, et al. · Int J Dermatol · 2009
Grade Dreview
Cryopyrin-associated periodic syndromes and autoinflammation
Shinkai K, McCalmont TH, Leslie KS · Clin Exp Dermatol · 2008
Grade Ccase reportn=1
Successful anakinra for refractory Schnitzler syndrome
Dybowski F, et al. · Clin Exp Rheumatol · 2008
Grade ARCT
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
Grade Ccase series
Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)
Hill SC, Namde M, Engel A, et al. · Pediatr Radiol · 2007
Grade Ccase reportn=1
Rituximab failure vs anakinra success in same patient
Eiling E, et al. · J Am Acad Dermatol · 2007
Grade Bsystematic reviewn=94
Landmark systematic review (94 patients)
de Koning HD, et al. · Semin Arthritis Rheum · 2007
Grade Ccase seriesn=11
Pefloxacin treatment in Schnitzler syndrome
Asli B, et al. · Arch Dermatol · 2007
Grade Ccase seriesn=3
Anakinra efficacy in 3 patients; thalidomide comparison
de Koning HD, et al. · Ann Rheum Dis · 2006
Grade Ccase reportn=1
Three-year radiological follow-up of Schnitzler syndrome
Bertrand A, et al. · Skeletal Radiol · 2006
Grade Acohortn=18
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition
Goldbach-Mansky R, Dailey NJ, Canna SW, et al. · N Engl J Med · 2006
Grade Ccase report
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
Grade Ccase reportn=1
First successful anakinra treatment
Martinez-Taboada VM, et al. · Arthritis Rheum · 2005
Grade Bcohort
Superantigen-driven polyclonal immune activation in CRSwNP
Bachert C, et al. · Am J Respir Crit Care Med · 2005
Grade Ccase seriesn=2
Thalidomide complete remission in Schnitzler syndrome
Worm M, Kolde G · Br J Dermatol · 2003
Grade Bnarrative review
Rhinitis and asthma: evidence for respiratory system integration
Togias A · J Allergy Clin Immunol · 2003
Grade Bcase report
Interleukin-1-receptor antagonist in the Muckle-Wells syndrome
Hawkins PN, Lachmann HJ, McDermott MF · N Engl J Med · 2003
Grade Agenetic study
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with NOMID
Aksentijevich I, Nowak M, Mallah M, et al. · Arthritis Rheum · 2002
Grade Bcase series
Lipsker diagnostic criteria for Schnitzler syndrome
Lipsker D, et al. · Medicine · 2001
Grade Agenetic study
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
Grade Ccase reportn=1
MRI features of bone involvement in Schnitzler syndrome
Lecouvet FE, et al. · AJR Am J Roentgenol · 2000
Grade Ccase reportn=1
Original Schnitzler patient: fatal WM after 20 years
Verret JL, et al. · Ann Dermatol Venereol · 1993
Grade Bcohortn=4986
Nasal polyps in asthma and rhinitis: prevalence study
Settipane GA, Chafee FH · J Allergy Clin Immunol · 1977
Grade Dcase report
Urticaria, deafness and amyloidosis: a new heredo-familial syndrome
Muckle TJ, Wells M · Q J Med · 1962
Grade Dcase report
A case of cold urticaria with an unusual family history
Kile RL, Rusk HA · JAMA · 1940