Research & Literature

The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.

Bascherini V, Granato C, Lopalco G, et al.

Clinical rheumatology 2015; (34(7)):1171-80 doi:10.1007/s10067-015-2920-3.

The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway.

Greco E, Aita A, Galozzi P, et al.

Arthritis research & therapy 2015; (17()):93 doi:10.1186/s13075-015-0604-7.

Canakinumab efficacy and long-term tocilizumab administration in tumor necrosis factor receptor-associated periodic syndrome (TRAPS).

La Torre F, Muratore M, Vitale A, et al.

Rheumatology international 2015; (35(11)):1943-7 doi:10.1007/s00296-015-3305-2.

Recommendations for the management of autoinflammatory diseases.

ter Haar NM, Oswald M, Jeyaratnam J, et al.

Annals of the rheumatic diseases 2015; (74(9)):1636-44 doi:10.1136/annrheumdis-2015-207546.

International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.

Ozen S, Kuemmerle-Deschner JB, Cimaz R, et al.

Arthritis care & research 2017; (69(4)):578-586 doi:10.1002/acr.23120.

Lung Involvement in Children with Hereditary Autoinflammatory Disorders.

Tarantino G, Esposito S, Andreozzi L, et al.

International journal of molecular sciences 2016; (17(12)).

Efficacy of anakinra in an adult patient with recurrent pericarditis and cardiac tamponade as initial manifestations of tumor necrosis factor receptor-associated periodic syndrome due to the R92Q TNFRSF1A variant.

Camprubí D, Mitjavila F, Arostegui JI, Corbella X

International journal of rheumatic diseases 2017; (20(4)):510-514 doi:10.1111/1756-185X.13029.

Disease Phenotype and Outcome Depending on the Age at Disease Onset in Patients Carrying the R92Q Low-Penetrance Variant in TNFRSF1A Gene.

Ruiz-Ortiz E, Iglesias E, Soriano A, et al.

Frontiers in immunology 2017; (8()):299 doi:10.3389/fimmu.2017.00299.

Novel mutation identified in severe early-onset tumor necrosis factor receptor-associated periodic syndrome: a case report.

Radhakrishna SM, Grimm A, Broderick L

BMC pediatrics 2017; (17(1)):108 doi:10.1186/s12887-017-0856-2.

Vision-threatening bilateral panuveitis and TRAPS in a child: an uncommon association.

Cocho L, Urbaneja E, Herreras JM

International ophthalmology 2019; (39(1)):219-223 doi:10.1007/s10792-017-0785-y.

Recurrent fever and arthralgia as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Chinese girl: a case report and review of the literature.

Chen Y, Huang X, Zheng S, et al.

Clinical rheumatology 2018; (37(5)):1433-1438 doi:10.1007/s10067-018-4023-4.

Inositol-Requiring Enzyme 1-Mediated Downregulation of MicroRNA (miR)-146a and miR-155 in Primary Dermal Fibroblasts across Three TNFRSF1A Mutations Results in Hyperresponsiveness to Lipopolysaccharide.

Harrison SR, Scambler T, Oubussad L, et al.

Frontiers in immunology 2018; (9()):173 doi:10.3389/fimmu.2018.00173.

[Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art].

Georgin-Lavialle S, Kone-Paut I, Delaleu J, et al.

La Revue de medecine interne 2018; (39(4)):256-264 doi:10.1016/j.revmed.2018.02.002.

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

De Benedetti F, Gattorno M, Anton J, et al.

The New England journal of medicine 2018; (378(20)):1908-1919 doi:10.1056/NEJMoa1706314.

Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.

Labrousse M, Kevorkian-Verguet C, Boursier G, et al.

Critical reviews in clinical laboratory sciences 2018; (55(6)):432-442 doi:10.1080/10408363.2018.1488805.

Treating TNF Receptor Associated Periodic Fever Syndrome in End-Stage Renal Failure.

Coutinho J, Chorão RS, Oliveira M, Santos CR

Case reports in nephrology 2019; (2019()):6819476 doi:10.1155/2019/6819476.

Classification criteria for autoinflammatory recurrent fevers.

Gattorno M, Hofer M, Federici S, et al.

Annals of the rheumatic diseases 2019; (78(8)):1025-1032 doi:10.1136/annrheumdis-2019-215048.

Somatic mosaicism in adult-onset TNF receptor-associated periodic syndrome (TRAPS).

Kontzias A, Zarabi SK, Calabrese C, et al.

Molecular genetics & genomic medicine 2019; (7(8)):e791 doi:10.1002/mgg3.791.

Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.

Tsuji S, Matsuzaki H, Iseki M, et al.

Clinical and experimental immunology 2019; (198(3)):416-429 doi:10.1111/cei.13365.

Molecular and clinical spectrum of four pedigrees of TRAPS in Greece: results from a national referral center.

Nezos A, Argyropoulou OD, Klinaki E, et al.

Rheumatology (Oxford, England) 2020; (59(6)):1241-1246 doi:10.1093/rheumatology/kez424.

Phenotypic variability in two patients with tumor necrosis factor receptor associated periodic fever syndrome emphasizes a rare manifestation: Immunoglobulin A nephropathy.

Balci S, Kisla Ekinci RM, Melek E, et al.

European journal of medical genetics 2020; (63(4)):103780 doi:10.1016/j.ejmg.2019.103780.

Clinical and genetic features of Chinese adult patients with tumour necrosis factor receptor-associated periodic fever syndrome.

Zhao M, Luo Y, Wu D, et al.

Rheumatology (Oxford, England) 2020; (59(8)):1969-1974 doi:10.1093/rheumatology/kez569.

FMF is not always "fever": from clinical presentation to "treat to target".

Maggio MC, Corsello G

Italian journal of pediatrics 2020; (46(1)):7 doi:10.1186/s13052-019-0766-z.

Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database.

Dingulu G, Georgin-Lavialle S, Koné-Paut I, et al.

Rheumatology (Oxford, England) 2020; (59(10)):2947-2952 doi:10.1093/rheumatology/keaa031.

Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.

Cudrici C, Deuitch N, Aksentijevich I

International journal of molecular sciences 2020; (21(9)) doi:10.3390/ijms21093263.

Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin D syndrome and tumour necrosis factor receptor-associated periodic syndrome.

Kuemmerle-Deschner JB, Gautam R, George AT, et al.

RMD open 2020; (6(2)) doi:10.1136/rmdopen-2020-001227.

Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network.

Gaggiano C, Vitale A, Obici L, et al.

Mediators of inflammation 2020; (2020()):8562485 doi:10.1155/2020/8562485.

[Periodic fever syndrome associated with mutations in the TNF type 1 receptor gene: A differential diagnosis of familial Mediterranean fever that should not be overlooked in patients of Mediterranean origin].

Bourguiba R, Savey L, Aouba A, et al.

La Revue de medecine interne 2021; (42(7)):459-464 doi:10.1016/j.revmed.2020.08.007.

Diagnosis and Management of a Young Girl With Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) Linked to a Novel Mutation.

Klinaki E, Nezos A, Tzioufas AG, et al.

Cureus 2020; (12(10)):e10766 doi:10.7759/cureus.10766.

Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.

Sözeri B, Demir F, Sönmez HE, et al.

Clinical rheumatology 2021; (40(6)):2327-2337 doi:10.1007/s10067-020-05492-8.

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, et al.

The journal of allergy and clinical immunology. In practice 2021; (9(2)):783-791.e4 doi:10.1016/j.jaip.2020.10.053.

Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis-Diagnostic and Therapeutic Challenge for Clinicians.

Zegarska J, Wiesik-Szewczyk E, Hryniewiecka E, et al.

Journal of clinical medicine 2021; (10(3)) doi:10.3390/jcm10030465.

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, et al.

Rheumatology (Oxford, England) 2021; (60(12)):5775-5784 doi:10.1093/rheumatology/keab252.

Biotechnological Agents for Patients With Tumor Necrosis Factor Receptor Associated Periodic Syndrome-Therapeutic Outcome and Predictors of Response: Real-Life Data From the AIDA Network.

Vitale A, Obici L, Cattalini M, et al.

Frontiers in medicine 2021; (8()):668173 doi:10.3389/fmed.2021.668173.

Subclinical TRAPS treated with canakinumab.

Amatruda M, Carucci NS, Fede C, Conti G

Reumatismo 2021; (73(2)):131-134 doi:10.4081/reumatismo.2021.1406.

Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.

McNaughton P, Willcocks S, Lum SH, et al.

Journal of paediatrics and child health 2022; (58(3)):404-408 doi:10.1111/jpc.15722.

Real-Life Indications of Interleukin-1 Blocking Agents in Hereditary Recurrent Fevers: Data From the JIRcohort and a Literature Review.

Vinit C, Georgin-Lavialle S, Theodoropoulou A, et al.

Frontiers in immunology 2021; (12()):744780 doi:10.3389/fimmu.2021.744780.

The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.

Zinterl C, Costa-Reis P, Esteves IC, et al.

Journal of multidisciplinary healthcare 2022; (15()):999-1010 doi:10.2147/JMDH.S351546.

The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.

Romano M, Arici ZS, Piskin D, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2022; (74(7)):1102-1121 doi:10.1002/art.42139.

The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist.

Romano M, Arici ZS, Piskin D, et al.

Annals of the rheumatic diseases 2022; (81(7)):907-921 doi:10.1136/annrheumdis-2021-221801.

Use of the Auto-inflammatory Disease Activity Index to monitor disease activity in patients with colchicine-resistant Familial Mediterranean Fever, Mevalonate Kinase Deficiency, and TRAPS treated with canakinumab.

Koné-Paut I, Piram M, Benseler S, et al.

Joint bone spine 2022; (89(6)):105448 doi:10.1016/j.jbspin.2022.105448.

Recurrent macrophage activation syndrome due to hyperimmunoglobulin D syndrome: a case-based review.

Gezgin Yıldırım D, Yıldız Yıldırım Ç, Karaçayır N, et al.

Clinical rheumatology 2023; (42(1)):277-283 doi:10.1007/s10067-022-06384-9.

Kidney Involvement in Autoinflammatory Diseases.

Zhang C, Peng J, Liu Z, Zhou Q

Kidney diseases (Basel, Switzerland) 2023; (9(3)):157-172 doi:10.1159/000529917.

Long-Term Efficacy and Safety of Canakinumab in Patients With Tumor Necrosis Factor Receptor-Associated Periodic Syndrome: Results From a Phase III Trial.

Gattorno M, Obici L, Penadés IC, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2024; (76(2)):304-312 doi:10.1002/art.42695.

The many faces of pediatric urticaria.

Sekerel BE, Ilgun Gurel D, Sahiner UM, et al.

Frontiers in allergy 2023; (4()):1267663 doi:10.3389/falgy.2023.1267663.

Tumor necrosis factor receptor-associated cycle syndrome: a case report and literature review.

Li Z, Jing X, Zhang S, et al.

Frontiers in pediatrics 2023; (11()):1296487 doi:10.3389/fped.2023.1296487.

A rare missense p.C125Y mutation in the TNFRSF1A gene identified in a Chinese family with tumor necrosis factor receptor-associated periodic fever syndrome.

Qian M, Zhou J, Wu J, et al.

Frontiers in genetics 2024; (15()):1413641 doi:10.3389/fgene.2024.1413641.

Tumor Necrosis Factor Receptor-Associated Periodic Syndrome: Genetics, Autoinflammation, and Recurrent Pericarditis.

Samhan A, Rasmussen CA, Prada CE, et al.

JACC. Case reports 2025; (30(8)):103206 doi:10.1016/j.jaccas.2024.103206.

TNF Receptor-Associated Periodic Syndrome: An Analysis of a Slovakian Cohort of TRAPS Patients.

Slenker B, Banovcin P, Hrubiskova K, et al.

Archives of rheumatology 2025; (40(3)):288-298 doi:10.5152/ArchRheumatol.2025.11126.

Effectiveness of "tumor necrosis factor inhibitors" in monogenic hereditary recurrent fevers in children and adolescents: a systematic review.

Dhahri R, Boussaid S, Ammar LB, et al.

Frontiers in immunology 2025; (16()):1710180 doi:10.3389/fimmu.2025.1710180.

The use of JAK inhibitors and tocilizumab in the management of TRAPS: a sibling case study.

Thai D, Tiller G, Akikusa J, et al.

Pediatric rheumatology online journal 2026; (24(1)).

Redefining the Landscape: Acquired Mutations Driving Systemic Autoinflammatory Diseases.

Rowczenio D, Omoyinmi E, Brown J, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2026; doi:10.1002/art.70282.