C7Grade Ccase reportn=1
748th case: novel MEFV and F2 gene variants
Kanabaj K, et al. · Int J Mol Sci · 2025
- ●Novel MEFV gene variant
- ●F2 gene variant
Sources & References
26 published sources for Schnitzler Syndrome, each with evidence grades and key findings.
26 total sourcesGrade B: 18Grade C: 8genetics (4)reviews (4)treatment (6)pathophysiology (5)diagnostics (5)epidemiology (2)
genetics
4 sources
C4Grade Bcohortn=30
MYD88 L265P in 30% of Schnitzler patients
Pathak S, et al. · Exploratory study · 2019
- ●MYD88 L265P in 9/30 (30%) patients
C2Grade Bcohortn=21
32-gene sequencing study
Rowczenio DM, et al. · Blood · 2018
- ●No shared genetic alteration across patients
C1Grade Ccase seriesn=2
NLRP3 somatic mosaicism in variant Schnitzler
de Koning HD, et al. · J Allergy Clin Immunol · 2015
- ●Somatic NLRP3 mosaicism in 2 patients
reviews
4 sources
J5Grade Bnarrative review
Most recent comprehensive review
Braud A, Lipsker D · Biomolecules · 2024
- ●Pathophysiology remains elusive
- ●All treatment options reviewed
J6Grade Bnarrative review
Modern look at Schnitzler syndrome
Kanabaj K, et al. · PubMed 40654214 · 2024
- ●Emphasis on anti-IL-1 treatment
- ●Persistent underdiagnosis
J4Grade Bnarrative reviewn=281
Schnitzler and Schnitzler-like syndromes review
Qiao J, Yao Q · PMC 9337259 · 2022
- ●CAPS spectrum relationship
- ●DPP10 as autoantigen
A5Grade Bnarrative reviewn=281
Comprehensive review (281 cases)
de Koning HD · Clin Transl Allergy · 2014
- ●Largest case review at the time
treatment
6 sources
I5Grade Ccase reportn=1
Ibrutinib for MYD88 L265P-positive Schnitzler
Huang Y, et al. · Front Immunol · 2022
- ●Symptoms resolved
- ●IgM declined (unique among all treatments)
I9Grade Bexpert opinion
Anakinra as first-line treatment policy
NHS England · NHS England · 2018
- ●Official recommendation of anakinra as first-line
G5Grade Bcohortn=29
Multicenter anakinra study (29 patients, France)
Néel A, et al. · Autoimmun Rev · 2014
- ●24/29 complete remission
- ●No lymphoproliferative disease on IL-1Ra
G6Grade Bcohortn=6
Czech multicenter anakinra study (6 patients)
Szturz P, et al. · PubMed 24739048 · 2014
- ●Complete remission in 5/6
H1Grade Bcohortn=8
Canakinumab efficacy (9-month trial)
de Koning HD, et al. · Ann Rheum Dis · 2013
- ●Sustained canakinumab efficacy
G1Grade Ccase reportn=1
First successful anakinra treatment
Martinez-Taboada VM, et al. · Arthritis Rheum · 2005
- ●First successful anakinra treatment
pathophysiology
5 sources
B4Grade Ccohort
NETosis in Schnitzler syndrome
Bonnekoh H, et al. · Front Immunol · 2019
- ●NETosis in lesional skin and blood
B7Grade Cexpert opinion
Shared MYD88/NF-κB mechanism hypothesis
Van Leersum FS, et al. · Orphanet J Rare Dis · 2019
- ●Proposed shared MYD88/NF-κB mechanism
B3Grade Ccohort
PBMC studies: spontaneous IL-1β release
Regnault V, et al. · Scand J Rheumatol · 2019
- ●PBMCs spontaneously release higher IL-1β, IL-1α, IL-6, TNFα
B2Grade Bcohortn=8
IL-1β centrality via canakinumab trial
de Koning HD, et al. · Arthritis Res Ther · 2015
- ●IL-1β centrality demonstrated
- ●PBMCs hyperresponsive to LPS
B1Grade Bnarrative review
Schnitzler syndrome as paradigm of acquired autoinflammatory disease
Lipsker D · Orphanet J Rare Dis · 2010
- ●Positioned as paradigm of acquired autoinflammatory disease
diagnostics
5 sources
A6Grade Bcohortn=80
Validation of diagnostic criteria
Gusdorf L, et al. · Allergy · 2017
- ●Lipsker: 100% sensitivity, 97% specificity
- ●Strasbourg definite: 81% sensitivity, 100% specificity
D3Grade Bcohortn=22
Bone imaging findings (22 patients)
Niederhauser BD, et al. · Skeletal Radiol · 2014
- ●64% had bone abnormalities
- ●Bone scintigraphy: 100% sensitivity
A4Grade Bexpert opinion
Strasbourg criteria for Schnitzler syndrome
Simon A, et al. · Allergy · 2013
- ●Established Strasbourg criteria
- ●Includes IgG variants
A2Grade Bcase series
Lipsker diagnostic criteria for Schnitzler syndrome
Lipsker D, et al. · Medicine · 2001
- ●Established first formal diagnostic criteria
A1Grade Ccase series
Original description of the syndrome
Schnitzler L, et al. · Bull Soc Franc Derm Syph · 1974
- ●First description of the syndrome
epidemiology
2 sources
E1Grade Bcohortn=62
Under-diagnosis at Mayo Clinic
Jain T, et al. · PMC 3789463 · 2013
- ●16 diagnosed + 46 undiagnosed at one institution
A3Grade Bsystematic reviewn=94
Landmark systematic review (94 patients)
de Koning HD, et al. · Semin Arthritis Rheum · 2007
- ●Established 10-year 15% lymphoproliferative risk
- ●Modified Lipsker criteria