[The most frequent febrile syndromes and autoinflammatory diseases in adulthood].

Die häufigsten Fiebersyndrome und autoinflammatorischen Erkrankungen im Erwachsenenalter.

Cryopyrin-associated periodic syndrome Familial Mediterranean fever Schnitzler syndrome Stillʼs disease VEXAS syndrome

Journal

Zeitschrift fur Rheumatologie

ISSN: 1435-1250

Titre abrégé: Z Rheumatol

Pays: Germany

ID NLM: 0414162

Informations de publication

Date de publication:
27 May 2024

Historique:

accepted: 24 04 2024

medline: 28 5 2024

pubmed: 28 5 2024

entrez: 27 5 2024

Statut: aheadofprint

Résumé

Autoinflammatory diseases are characterized by inflammatory manifestations in various organ systems, whereby recurrent febrile episodes, musculoskeletal complaints, gastrointestinal and cutaneous symptoms frequently occur accompanied by serological signs of inflammation. Autoinflammatory diseases include rare monogenic entities and multifactorial or polygenic diseases, which can manifest as a variety of symptoms in the course of time. Examples of monogenic autoinflammatory diseases are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) and the recently described VEXAS (vacuoles, E1 enzyme, X‑linked, autoinflammatory and somatic) syndrome. For non-monogenically determined autoinflammatory diseases, the most important representatives in adulthood are adult-onset Still's disease (AOSD) and the Schnitzler syndrome, in which a polygenic susceptibility and epigenetic factors are more likely to play a role. Autoinflammatorische Erkrankungen zeichnen sich durch entzündliche Manifestationen in verschiedenen Organsystemen aus, wobei wiederkehrende Fieberschübe, muskuloskeletale Beschwerden, gastrointestinale und kutane Symptome, begleitet von serologischen Entzündungszeichen, häufig auftreten. Die autoinflammatorischen Erkrankungen umfassen seltene monogenetische Entitäten sowie multifaktorielle/polygene Krankheiten, die sich mit variabler Symptomatik im Laufe der Zeit manifestieren können. Beispiele für monogenetische autoinflammatorische Erkrankungen sind das familiäre Mittelmeerfieber (FMF), das Cryopyrin-assoziierte periodische Syndrom (CAPS), das TNF(Tumor-Nekrose-Faktor)-Rezeptor-assoziierte periodische Syndrom (TRAPS) und das neu beschriebene VEXAS-Syndrom. Bei den nichtmonogenetisch determinierten autoinflammatorischen Erkrankungen sind die wichtigsten Vertreter im Erwachsenenalter die adulte Form der Still-Erkrankung (AOSD) und das Schnitzler-Syndrom, bei denen eher eine polygenetische Suszeptibilität und epigenetische Faktoren eine Rolle spielen.

Autres résumés

Type: Publisher (ger)

Autoinflammatorische Erkrankungen zeichnen sich durch entzündliche Manifestationen in verschiedenen Organsystemen aus, wobei wiederkehrende Fieberschübe, muskuloskeletale Beschwerden, gastrointestinale und kutane Symptome, begleitet von serologischen Entzündungszeichen, häufig auftreten. Die autoinflammatorischen Erkrankungen umfassen seltene monogenetische Entitäten sowie multifaktorielle/polygene Krankheiten, die sich mit variabler Symptomatik im Laufe der Zeit manifestieren können. Beispiele für monogenetische autoinflammatorische Erkrankungen sind das familiäre Mittelmeerfieber (FMF), das Cryopyrin-assoziierte periodische Syndrom (CAPS), das TNF(Tumor-Nekrose-Faktor)-Rezeptor-assoziierte periodische Syndrom (TRAPS) und das neu beschriebene VEXAS-Syndrom. Bei den nichtmonogenetisch determinierten autoinflammatorischen Erkrankungen sind die wichtigsten Vertreter im Erwachsenenalter die adulte Form der Still-Erkrankung (AOSD) und das Schnitzler-Syndrom, bei denen eher eine polygenetische Suszeptibilität und epigenetische Faktoren eine Rolle spielen.

Identifiants

DOI: 10.1007/s00393-024-01522-x PMID: 38802504

pubmed: 38802504

doi: 10.1007/s00393-024-01522-x

pii: 10.1007/s00393-024-01522-x

doi:

Types de publication

English Abstract Journal Article Review

Langues

ger

Sous-ensembles de citation

Informations de copyright

Références

Kotter I, Krusche M (2023) Inflammatory rheumatic diseases in migrants. Inn Med 64(5):426–434. https://doi.org/10.1007/s00108-023-01514-0

doi: 10.1007/s00108-023-01514-0

Ben-Chetrit E, Touitou I (2009) Familial mediterranean Fever in the world. Arthritis Rheum 61(10):1447–1453. https://doi.org/10.1002/art.24458

doi: 10.1002/art.24458 pubmed: 19790133

Bonnekoh H, Butze M, Kallinich T, Kambe N, Kokolakis G, Krause K (2020) Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms. Acta Derm Venereol 100(7):adv91. https://doi.org/10.2340/00015555-3427

doi: 10.2340/00015555-3427 pubmed: 32147748

Kallinich T, Orak B, Wittkowski H (2017) Rolle der Genetik beim familiären Mittelmeerfieber. Z Rheumatol 76:303–312. https://doi.org/10.1007/s00393-017-0265-9

doi: 10.1007/s00393-017-0265-9 pubmed: 28154935

Ozen S, Demirkaya E, Erer B et al (2016) EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis 75(4):644–651. https://doi.org/10.1136/annrheumdis-2015-208690

doi: 10.1136/annrheumdis-2015-208690 pubmed: 26802180

Gattorno M, Hofer M, Federici S et al (2019) Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis 78(8):1025–1032. https://doi.org/10.1136/annrheumdis-2019-215048

doi: 10.1136/annrheumdis-2019-215048 pubmed: 31018962

Pankow A, Feist E, Baumann U, Kirschstein M, Burmester GR, Wagner AD (2021) What is confirmed in the treatment of autoinflammatory fever diseases? Internist 62(12):1280–1289. https://doi.org/10.1007/s00108-021-01220-9

doi: 10.1007/s00108-021-01220-9 pubmed: 34878558

Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J (1986) Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med 314(16):1001–1005. https://doi.org/10.1056/NEJM198604173141601

doi: 10.1056/NEJM198604173141601 pubmed: 3515182

Levinsky Y, Azani L, Shkalim Zemer V et al (2023) Adherence to colchicine prophylaxis among patients with familial Mediterranean fever treated with interleukin-1 inhibitors. Semin Arthritis Rheum 61:152211. https://doi.org/10.1016/j.semarthrit.2023.152211

doi: 10.1016/j.semarthrit.2023.152211 pubmed: 37201215

Stewart S, Yang KCK, Atkins K, Dalbeth N, Robinson PC (2020) Adverse events during oral colchicine use: a systematic review and meta-analysis of randomised controlled trials. Arthritis Res Ther 22(1):28. https://doi.org/10.1186/s13075-020-2120-7

doi: 10.1186/s13075-020-2120-7 pubmed: 32054504 pmcid: 7020579

Boyadzhieva Z, Ruffer N, Krusche M (2021) Colchicine: old medication with new benefits : Use in rheumatology and beyond. Z Rheumatol 80(7):647–657. https://doi.org/10.1007/s00393-021-01017-z

doi: 10.1007/s00393-021-01017-z pubmed: 34097101 pmcid: 8181537

Kallinich T, Blank N, Braun T et al (2019) Evidence-based treatment recommendations for familial Mediterranean fever : A joint statement by the Society for Pediatric and Adolescent Rheumatology and the German Society for Rheumatology. Z Rheumatol 78(1):91–101. https://doi.org/10.1007/s00393-018-0588-1

doi: 10.1007/s00393-018-0588-1 pubmed: 30684030

Cebeci SO, Yildiz M, Gunalp A et al (2023) The efficacy of a single-dose anakinra injection during disease attack in pediatric familial Mediterranean fever. Rheumatol Int. https://doi.org/10.1007/s00296-023-05351-0

doi: 10.1007/s00296-023-05351-0 pubmed: 37277620

Kallinich T, Orak B, Wittkowski H (2017) Role of genetics in familial Mediterranean fever. Z Rheumatol 76(4):303–312. https://doi.org/10.1007/s00393-017-0265-9

doi: 10.1007/s00393-017-0265-9 pubmed: 28154935

Twig G, Livneh A, Vivante A et al (2014) Mortality risk factors associated with familial Mediterranean fever among a cohort of 1.25 million adolescents. Ann Rheum Dis 73(4):704–709. https://doi.org/10.1136/annrheumdis-2012-202932

doi: 10.1136/annrheumdis-2012-202932 pubmed: 23505237

Aksentijevich I, Putnam CD, Remmers EF et al (2007) The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 56(4):1273–1285. https://doi.org/10.1002/art.22491

doi: 10.1002/art.22491 pubmed: 17393462 pmcid: 4321998

Hoffman HMK-DJB, Goldbach-Mansky R (2019) Cryopyrine-Associated Periodic Syndromes (CAPS). In: Hashkes PJ, Laxer RM, Simon A (Hrsg) extbook of Autoinflammation. Springer, Berlin/Heidelberg,Germany, S 347–365

doi: 10.1007/978-3-319-98605-0_19

Krusche M, Kallinich T (2022) Autoinflammation-differences between children and adults. Z Rheumatol 81(1):45–54. https://doi.org/10.1007/s00393-021-01115-y

doi: 10.1007/s00393-021-01115-y pubmed: 34762171

Rowczenio DM, Gomes SM, Arostegui JI et al (2017) Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience. Front Immunol 8:1410. https://doi.org/10.3389/fimmu.2017.01410

doi: 10.3389/fimmu.2017.01410 pubmed: 29163488 pmcid: 5671490

Ben-Chetrit E, Gattorno M, Gul A et al (2018) Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study. Ann Rheum Dis 77(11):1558–1565. https://doi.org/10.1136/annrheumdis-2017-212515

doi: 10.1136/annrheumdis-2017-212515 pubmed: 30100561

Krause K, Degener F, Altrichter S et al (2010) Cold-induced urticaria and angioedema. Classification, diagnosis and therapy. Hautarzt 61(9):743–749. https://doi.org/10.1007/s00105-010-1932-9

doi: 10.1007/s00105-010-1932-9 pubmed: 20697684

Herbert VG, Ahmadi-Simab K, Reich K, Boer-Auer A (2016) Neutrophilic urticarial dermatosis (NUD) indicating Cryopyrin-associated periodic syndrome associated with a novel mutation of the NLRP3 gene. J Eur Acad Dermatol Venereol 30(5):852–853. https://doi.org/10.1111/jdv.13020

doi: 10.1111/jdv.13020 pubmed: 25732894

ter Haar NM, Oswald M, Jeyaratnam J et al (2015) Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis 74(9):1636–1644. https://doi.org/10.1136/annrheumdis-2015-207546

doi: 10.1136/annrheumdis-2015-207546 pubmed: 26109736

Welzel T, Kuemmerle-Deschner JB (2021) Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? J Clin Med. https://doi.org/10.3390/jcm10010128

doi: 10.3390/jcm10010128 pubmed: 33562758 pmcid: 7915607

Rodriguez-Smith J, Lin YC, Tsai WL et al (2017) Cerebrospinal Fluid Cytokines Correlate With Aseptic Meningitis and Blood-Brain Barrier Function in Neonatal-Onset Multisystem Inflammatory Disease: Central Nervous System Biomarkers in Neonatal-Onset Multisystem Inflammatory Disease Correlate With Central Nervous System Inflammation. Arthritis Rheumatol 69(6):1325–1336. https://doi.org/10.1002/art.40055

doi: 10.1002/art.40055 pubmed: 28118536 pmcid: 5449229

Putnam CD, Broderick L, Hoffman HM (2023) The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity. Immunol Rev. https://doi.org/10.1111/imr.13292

doi: 10.1111/imr.13292 pubmed: 38146057

Lachmann HJ, Papa R, Gerhold K et al (2014) The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. Ann Rheum Dis 73(12):2160–2167. https://doi.org/10.1136/annrheumdis-2013-204184

doi: 10.1136/annrheumdis-2013-204184 pubmed: 23965844

Savic S, Dickie LJ, Battellino M, McDermott MF (2012) Familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseases. Curr Opin Rheumatol 24(1):103–112. https://doi.org/10.1097/BOR.0b013e32834dd2d5

doi: 10.1097/BOR.0b013e32834dd2d5 pubmed: 22089100

Hull KM, Drewe E, Aksentijevich I et al (2002) The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine 81(5):349–368. https://doi.org/10.1097/00005792-200209000-00002

doi: 10.1097/00005792-200209000-00002 pubmed: 12352631

De Benedetti F, Gattorno M, Anton J et al (2018) Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes. N Engl J Med 378(20):1908–1919. https://doi.org/10.1056/NEJMoa1706314

doi: 10.1056/NEJMoa1706314 pubmed: 29768139

Gattorno M, Obici L, Cattalini M et al (2017) Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study. Ann Rheum Dis 76(1):173–178. https://doi.org/10.1136/annrheumdis-2015-209031

doi: 10.1136/annrheumdis-2015-209031 pubmed: 27269295

Gattorno M, Pelagatti MA, Meini A et al (2008) Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 58(5):1516–1520. https://doi.org/10.1002/art.23475

doi: 10.1002/art.23475 pubmed: 18438813

Ter Haar N, Lachmann H, Ozen S et al (2013) Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 72(5):678–685. https://doi.org/10.1136/annrheumdis-2011-201268

doi: 10.1136/annrheumdis-2011-201268 pubmed: 22753383

Beck DB, Bodian DL, Shah V et al (2023) Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA 329(4):318–324. https://doi.org/10.1001/jama.2022.24836

doi: 10.1001/jama.2022.24836 pubmed: 36692560 pmcid: 10408261

Beck DB, Ferrada MA, Sikora KA et al (2020) Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med 383(27):2628–2638. https://doi.org/10.1056/NEJMoa2026834

doi: 10.1056/NEJMoa2026834 pubmed: 33108101 pmcid: 7847551

Georgin-Lavialle S, Terrier B, Guedon AF et al (2022) Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br J Dermatol 186(3):564–574. https://doi.org/10.1111/bjd.20805

doi: 10.1111/bjd.20805 pubmed: 34632574

Ferrada MA, Sikora KA, Luo Y et al (2021) Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS. Arthritis Rheumatol 73(10):1886–1895. https://doi.org/10.1002/art.41743

doi: 10.1002/art.41743 pubmed: 33779074

Tsuchida N, Kunishita Y, Uchiyama Y et al (2021) Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis. Ann Rheum Dis 80(8):1057–1061. https://doi.org/10.1136/annrheumdis-2021-220089

doi: 10.1136/annrheumdis-2021-220089 pubmed: 33789873

Muratore F, Marvisi C, Castrignano P et al (2022) VEXAS Syndrome: A Case Series From a Single-Center Cohort of Italian Patients With Vasculitis. Arthritis Rheumatol 74(4):665–670. https://doi.org/10.1002/art.41992

doi: 10.1002/art.41992 pubmed: 34611997 pmcid: 8957507

Matsumoto H, Asano T, Tsuchida N et al (2022) Behcet’s disease with a somatic UBA1 variant:Expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome. Clin Immunol 238:108996. https://doi.org/10.1016/j.clim.2022.108996

doi: 10.1016/j.clim.2022.108996 pubmed: 35398520

Beck DB, Grayson PC, Kastner DL (2021) Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease. Reply. N Engl J Med 384(22):2164–2165. https://doi.org/10.1056/NEJMc2102124

doi: 10.1056/NEJMc2102124 pubmed: 34077654

Betrains AJV, Dieudonne Y, Dion J, Lazaro E, De Moreuil C, Ardois S, Grosleron S, Arlet J, Durel C, Delaval L, Audia S, Golden C, Nicolas B, Langlois V, Perlat A, Vandergheynst F, Moulinet T, Samson M, Blockmans D, Kosmider O, Georgin-Lavialle S, Mekinian A, Terrier B Abnormalities Detected with [18F]-FDG-PET/CT Imaging in VEXAS Syndrome [abstract. https://acrabstracts.org/abstract/abnormalities-detected-with-18f-fdg-pet-ct-imaging-in-vexas-syndrome/ (Arthritis Rheumatol 2023;75 (suppl 9))

Casal Moura M, Baqir M, Tandon YK et al (2023) Pulmonary manifestations in VEXAS syndrome. Respir Med 213:107245. https://doi.org/10.1016/j.rmed.2023.107245

doi: 10.1016/j.rmed.2023.107245 pubmed: 37062498

Oo TM, Koay JTJ, Lee SF, Lee SMS, Lim XR, Fan BE (2022) Thrombosis in VEXAS syndrome. J Thromb Thrombolysis 53(4):965–970. https://doi.org/10.1007/s11239-021-02608-y

doi: 10.1007/s11239-021-02608-y pubmed: 34817788

Ruffer N, Krusche M (2023) VEXAS syndrome: a diagnostic puzzle. RMD Open. https://doi.org/10.1136/rmdopen-2023-003332

doi: 10.1136/rmdopen-2023-003332 pubmed: 38101819 pmcid: 10729190

Bruno A, Gurnari C, Alexander T et al (2023) Autoimmune manifestations in VEXAS: Opportunities for integration and pitfalls to interpretation. J Allergy Clin Immunol 151(5):1204–1214. https://doi.org/10.1016/j.jaci.2023.02.017

doi: 10.1016/j.jaci.2023.02.017 pubmed: 36948992

Gurnari C, Pagliuca S, Durkin L et al (2021) Vacuolization of hematopoietic precursors: an enigma with multiple etiologies. Blood 137(26):3685–3689. https://doi.org/10.1182/blood.2021010811

doi: 10.1182/blood.2021010811 pubmed: 33690844 pmcid: 8462399

Gurnari C, McLornan DP (2022) Update on VEXAS and role of allogeneic bone marrow transplant: Considerations on behalf of the Chronic Malignancies Working Party of the EBMT. Bone Marrow Transplant 57(11):1642–1648. https://doi.org/10.1038/s41409-022-01774-8

doi: 10.1038/s41409-022-01774-8 pubmed: 35941354

Patel BA, Young NS (2022) Towards treatments for VEXAS. Br J Haematol 196(4):804–805. https://doi.org/10.1111/bjh.17930

doi: 10.1111/bjh.17930 pubmed: 34729765

Boyadzhieva Z, Ruffer N, Kotter I, Krusche M (2023) How to treat VEXAS-Syndrome: a systematic review on effectiveness and safety of current treatment strategies. Rheumatology. https://doi.org/10.1093/rheumatology/kead240

doi: 10.1093/rheumatology/kead240 pubmed: 37233149

Comont T, Heiblig M, Riviere E et al (2022) Azacitidine for patients with Vacuoles, E1 Enzyme, X‑linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry. Br J Haematol 196(4):969–974. https://doi.org/10.1111/bjh.17893

doi: 10.1111/bjh.17893 pubmed: 34651299

Diarra A, Duployez N, Terriou L (2021) Mutant UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med 384(22):2163–2164. https://doi.org/10.1056/NEJMc2102124

doi: 10.1056/NEJMc2102124 pubmed: 34077652

Al-Hakim A, Poulter JA, Mahmoud D et al (2022) Allogeneic haematopoietic stem cell transplantation for VEXAS syndrome: UK experience. Br J Haematol. https://doi.org/10.1111/bjh.18488

doi: 10.1111/bjh.18488 pubmed: 36184391

de Valence B, Delaune M, Nguyen Y et al (2023) Serious infections in patients with VEXAS syndrome: data from the French VEXAS registry. Ann Rheum Dis. https://doi.org/10.1136/ard-2023-224819

doi: 10.1136/ard-2023-224819

Feist E, Mitrovic S, Fautrel B (2018) Mechanisms, biomarkers and targets for adult-onset Still’s disease. Nat Rev Rheumatol 14(10):603–618. https://doi.org/10.1038/s41584-018-0081-x

doi: 10.1038/s41584-018-0081-x pubmed: 30218025 pmcid: 7097309

Behrens EM, Beukelman T, Gallo L et al (2008) Evaluation of the presentation of systemic onset juvenile rheumatoid arthritis: data from the Pennsylvania Systemic Onset Juvenile Arthritis Registry (PASOJAR). J Rheumatol 35(2):343–348 ( https://www.ncbi.nlm.nih.gov/pubmed/18085728 )

pubmed: 18085728

Magadur-Joly G, Billaud E, Barrier JH et al (1995) Epidemiology of adult Still’s disease: estimate of the incidence by a retrospective study in west France. Ann Rheum Dis 54(7):587–590. https://doi.org/10.1136/ard.54.7.587

doi: 10.1136/ard.54.7.587 pubmed: 7668903 pmcid: 1009940

Gerfaud-Valentin M, Maucort-Boulch D, Hot A et al (2014) Adult-onset still disease: manifestations, treatment, outcome, and prognostic factors in 57 patients. Medicine 93(2):91–99. https://doi.org/10.1097/MD.0000000000000021

doi: 10.1097/MD.0000000000000021 pubmed: 24646465 pmcid: 4616309

Church LD, Cook GP, McDermott MF (2008) Primer: inflammasomes and interleukin 1beta in inflammatory disorders. Nat Clin Pract Rheumatol 4(1):34–42. https://doi.org/10.1038/ncprheum0681

doi: 10.1038/ncprheum0681 pubmed: 18172447

Foll D, Wittkowski H, Hinze C (2020) Still’s disease as biphasic disorder : Current knowledge on pathogenesis and novel treatment approaches. Z Rheumatol 79(7):639–648. https://doi.org/10.1007/s00393-020-00779-2

doi: 10.1007/s00393-020-00779-2 pubmed: 32253510

Fautrel B (2008) Adult-onset Still disease. Best Pract Res Clin Rheumatol 22(5):773–792. https://doi.org/10.1016/j.berh.2008.08.006

doi: 10.1016/j.berh.2008.08.006 pubmed: 19028363

Crispin JC, Martinez-Banos D, Alcocer-Varela J (2005) Adult-onset Still disease as the cause of fever of unknown origin. Medicine 84(6):331–337. https://doi.org/10.1097/01.md.0000188009.47085.76

doi: 10.1097/01.md.0000188009.47085.76 pubmed: 16267408

Zuelgaray E, Battistella M, de Salle Chou C et al (2018) Increased severity and epidermal alterations in persistent versus evanescent skin lesions in adult-onset Still disease. J Am Acad Dermatol 79(5):969–971. https://doi.org/10.1016/j.jaad.2018.05.020

doi: 10.1016/j.jaad.2018.05.020 pubmed: 29787836

Nies JF, Schneider U, Krusche M (2022) Rare, rarer, lung involvement in adult-onset Still’s disease: A mini-review. Front Med 9:989777. https://doi.org/10.3389/fmed.2022.989777

doi: 10.3389/fmed.2022.989777

Kedor C, Tomaras S, Baeumer D, Feist E (2021) Update on the therapy of adult-onset Still’s disease with a focus on IL-1-inhibition: a systematic review. Ther Adv Musculoskelet Dis 13:1759720X211059598. https://doi.org/10.1177/1759720X211059598

doi: 10.1177/1759720X211059598 pubmed: 34868356 pmcid: 8641116

de Koning HD (2014) Schnitzler’s syndrome: lessons from 281 cases. Clin Transl Allergy 4:41. https://doi.org/10.1186/2045-7022-4-41

doi: 10.1186/2045-7022-4-41 pubmed: 25905009 pmcid: 4405827

Mulla E, Neame R (2015) Delayed development of the IgM paraprotein in Schnitzler’s syndrome. Scand J Rheumatol 44(6):521–522. https://doi.org/10.3109/03009742.2015.1071421

doi: 10.3109/03009742.2015.1071421 pubmed: 26395927

Simon A, Asli B, Braun-Falco M et al (2013) Schnitzler’s syndrome: diagnosis, treatment, and follow-up. Allergy 68(5):562–568. https://doi.org/10.1111/all.12129

doi: 10.1111/all.12129 pubmed: 23480774

Ryan JG, de Koning HD, Beck LA, Booty MG, Kastner DL, Simon A (2008) IL‑1 blockade in Schnitzler syndrome: ex vivo findings correlate with clinical remission. J Allergy Clin Immunol 121(1):260–262. https://doi.org/10.1016/j.jaci.2007.09.021

doi: 10.1016/j.jaci.2007.09.021 pubmed: 17936890

van Leersum FS, Potjewijd J, van Geel M, Steijlen PM, Vreeburg M (2019) Schnitzler’s syndrome—a novel hypothesis of a shared pathophysiologic mechanism with Waldenstrom’s disease. Orphanet J Rare Dis 14(1):151. https://doi.org/10.1186/s13023-019-1117-2

doi: 10.1186/s13023-019-1117-2 pubmed: 31228950 pmcid: 6589170

Kacar M, Pathak S, Savic S (2019) Hereditary systemic autoinflammatory diseases and Schnitzler’s syndrome. Rheumatology 58(Suppl 6):vi31–vi43. https://doi.org/10.1093/rheumatology/kez448

doi: 10.1093/rheumatology/kez448 pubmed: 31769858 pmcid: 6878846

Pathak S, Rowczenio DM, Owen RG et al (2019) Exploratory Study of MYD88 L265P, Rare NLRP3 Variants, and Clonal Hematopoiesis Prevalence in Patients With Schnitzler Syndrome. Arthritis Rheumatol 71(12):2121–2125. https://doi.org/10.1002/art.41030

doi: 10.1002/art.41030 pubmed: 31268627

Claes K, Bammens B, Delforge M, Evenepoel P, Kuypers D, Vanrenterghem Y (2008) Another devastating complication of the Schnitzler syndrome: AA amyloidosis. Br J Dermatol 158(1):182–184. https://doi.org/10.1111/j.1365-2133.2007.08251.x

doi: 10.1111/j.1365-2133.2007.08251.x pubmed: 17941941

Niederhauser BD, Dingli D, Kyle RA, Ringler MD (2014) Imaging findings in 22 cases of Schnitzler syndrome: characteristic para-articular osteosclerosis, and the “hot knees” sign differential diagnosis. Skelet Radiol 43(7):905–915. https://doi.org/10.1007/s00256-014-1857-y

doi: 10.1007/s00256-014-1857-y

Alix L, Neel A, Cador B et al (2019) Diagnostic value of 18‑F fluorodeoxyglucose PET/CT and bone scan in Schnitzler syndrome. Autoimmunity 52(7-8):264–271. https://doi.org/10.1080/08916934.2019.1680649

doi: 10.1080/08916934.2019.1680649 pubmed: 31646899

Neel A, Henry B, Barbarot S et al (2014) Long-term effectiveness and safety of interleukin‑1 receptor antagonist (anakinra) in Schnitzler’s syndrome: a French multicenter study. Autoimmun Rev 13(10):1035–1041. https://doi.org/10.1016/j.autrev.2014.08.031

doi: 10.1016/j.autrev.2014.08.031 pubmed: 25220180

Krause K, Bonnekoh H, Ellrich A et al (2020) Long-term efficacy of canakinumab in the treatment of Schnitzler syndrome. J Allergy Clin Immunol 145(6):1681–1686 e5. https://doi.org/10.1016/j.jaci.2019.12.909

doi: 10.1016/j.jaci.2019.12.909 pubmed: 31940469

Lipsker D (2010) The Schnitzler syndrome. Orphanet J Rare Dis 5:38. https://doi.org/10.1186/1750-1172-5-38

doi: 10.1186/1750-1172-5-38 pubmed: 21143856 pmcid: 3018454

Bonnekoh H, Frischbutter S, Roll S, Maurer M, Krause K (2021) Tocilizumab treatment in patients with Schnitzler syndrome: An open-label study. J Allergy Clin Immunol Pract 9(6):2486–2489 e4. https://doi.org/10.1016/j.jaip.2021.01.024

doi: 10.1016/j.jaip.2021.01.024 pubmed: 33545397

Paladini A, Vitale A, Frediani B, Cantarini L (2021) Resolution of Schnitzler’s syndrome after haematopoietic stem cell transplantation. Clin Exp Rheumatol 39(3):704. https://doi.org/10.55563/clinexprheumatol/1r3i7i

doi: 10.55563/clinexprheumatol/1r3i7i pubmed: 33635215

Levy R, Gerard L, Kuemmerle-Deschner J et al (2015) Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. Ann Rheum Dis 74(11):2043–2049. https://doi.org/10.1136/annrheumdis-2013-204991

doi: 10.1136/annrheumdis-2013-204991 pubmed: 25038238

Yamaguchi M, Ohta A, Tsunematsu T et al (1992) Preliminary criteria for classification of adult Still’s disease. J Rheumatol 19(3):424–430 ( https://www.ncbi.nlm.nih.gov/pubmed/1578458 )

pubmed: 1578458

Kedor CFE Adulter Morbus Still – Neues zur Diagnostik und Therapie – Adult-Onset Still’s Disease: New Developments in Diagnostics and Treatment. Thieme

Vordenbaumen S, Feist E, Rech J et al (2022) DGRh S2e guidelines : Diagnostic and treatment of adult-onset Still’s disease (AOSD). Z Rheumatol 81(Suppl 1):1–20. https://doi.org/10.1007/s00393-022-01276-4

doi: 10.1007/s00393-022-01276-4 pubmed: 36367577