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, an

The interleukin‐1 (IL‐1) mediated systemic autoinflammatory diseases, including the cryopyrin‐ associated periodic syndromes (CAPS), tumour necrosis factor receptor‐associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD) and deficiency of the IL‐1 receptor antagonist (DIRA), belong to a group of rare immunodysregulatory diseases that primarily present in early childhood with variable multiorgan involvement. When untreated, patients with severe clinical phenotypes have a poor prognosis, and diagnosis and management of these patients can be challenging. However, approved treatments targeting the proinflammatory cytokine IL‐1 have been life changing and have significantly improved patient outcomes.

[1]  C. Wouters,et al.  Phenotypic analysis of Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis patients during treatment. , 2021, Rheumatology.

[2]  K. Minden,et al.  INSAID variant classification and Eurofever criteria guide optimal treatment strategy in patients with TRAPS: data from the Eurofever registry. , 2020, The journal of allergy and clinical immunology. In practice.

[3]  S. Ozen,et al.  Burden of illness in hereditary periodic fevers: a multinational observational patient diary study. , 2020, Clinical and experimental rheumatology.

[4]  I. Tsiflikas,et al.  New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation. , 2020, Rheumatology.

[5]  L. Cuisset,et al.  AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature. , 2020, Seminars in arthritis and rheumatism.

[6]  A. Belot,et al.  Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database. , 2020, Rheumatology.

[7]  O. Ohara,et al.  ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era. , 2020, Clinical chemistry.

[8]  M. Akiyama,et al.  Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects , 2019, American Journal of Clinical Dermatology.

[9]  Wen Zhang,et al.  Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases. , 2019, Seminars in arthritis and rheumatism.

[10]  S. Al‐Mayouf,et al.  Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG) , 2019, Rheumatology International.

[11]  L. Goffin,et al.  Rapid and Sustained Long‐Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin‐Associated Periodic Syndrome Ages Five Years and Younger , 2019, Arthritis & rheumatology.

[12]  R. Arts,et al.  Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency , 2019, Front. Immunol..

[13]  P. Hawkins,et al.  Retrospective case series describing the efficacy, safety and cost-effectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrin-associated periodic syndrome , 2019, Pediatric Rheumatology.

[14]  S. Amselem,et al.  The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event , 2019, ACR open rheumatology.

[15]  H. Fuchs,et al.  Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans , 2019, Proceedings of the National Academy of Sciences.

[16]  H. Kılıç,et al.  Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome. , 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[17]  M. Sormani,et al.  Classification criteria for autoinflammatory recurrent fevers , 2019, Annals of the rheumatic diseases.

[18]  M. Tesařová,et al.  Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease , 2019, Front. Immunol..

[19]  E. Feist,et al.  State of care for patients with systemic autoinflammatory diseases – Results of a tertiary care survey , 2019, The World Allergy Organization journal.

[20]  O. Ohara,et al.  National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics , 2019, Modern rheumatology.

[21]  J. Kuemmerle-Deschner,et al.  Living with autoinflammatory diseases: identifying unmet needs of children, adolescents and adults , 2018, Pediatric Rheumatology.

[22]  P. Karagianni,et al.  Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms. , 2018, Clinical and experimental rheumatology.

[23]  D. Kastner,et al.  Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study , 2018, Annals of the rheumatic diseases.

[24]  B. Hallén,et al.  Development and effect of antibodies to anakinra during treatment of severe CAPS: sub-analysis of a long-term safety and efficacy study , 2018, Clinical Rheumatology.

[25]  E. Ben-Chetrit,et al.  Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes , 2018, The New England journal of medicine.

[26]  E. Hoppenreijs,et al.  Decreased quality of life and societal impact of cryopyrin-associated periodic syndrome treated with canakinumab: a questionnaire based cohort study , 2018, Orphanet Journal of Rare Diseases.

[27]  N. Wulffraat,et al.  The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey , 2018, Pediatric Rheumatology.

[28]  Jiang-hong Deng,et al.  Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS) , 2017, Science China Life Sciences.

[29]  P. Hawkins,et al.  International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors , 2017, Rheumatology.

[30]  R. Ravazzolo,et al.  Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization , 2017, The Journal of Rheumatology.

[31]  R. Goldbach-Mansky,et al.  Brief Report: Clinical and Molecular Phenotypes of Low‐Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges , 2017, Arthritis & rheumatology.

[32]  P. Hawkins,et al.  Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience , 2017, Front. Immunol..

[33]  L. Bezrodnik,et al.  A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry , 2017, Orphanet Journal of Rare Diseases.

[34]  T. van der Poll,et al.  Safety of vaccinations in patients with cryopyrin-associated periodic syndromes: a prospective registry based study , 2017, Rheumatology.

[35]  J. Reynolds,et al.  Rilonacept maintains long-term inflammatory remission in patients with deficiency of the IL-1 receptor antagonist. , 2017, JCI insight.

[36]  S. Quéré,et al.  Real‐World Experience and Impact of Canakinumab in Cryopyrin‐Associated Periodic Syndrome: Results From a French Observational Study , 2017, Arthritis care & research.

[37]  M. Gadina,et al.  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 , 2017, Arthritis & rheumatology.

[38]  S. Chandrasekharappa,et al.  Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN , 2017, Journal of Clinical Immunology.

[39]  S. Ozen,et al.  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 , 2017, Arthritis care & research.

[40]  P. Ferguson,et al.  Chronic Recurrent Multifocal Osteomyelitis and Related Diseases—Update on Pathogenesis , 2017, Current Rheumatology Reports.

[41]  J. Yagüe,et al.  Disease Phenotype and Outcome Depending on the Age at Disease Onset in Patients Carrying the R92Q Low-Penetrance Variant in TNFRSF1A Gene , 2017, Front. Immunol..

[42]  H. Maurey,et al.  Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS) , 2017, Orphanet Journal of Rare Diseases.

[43]  S. Ozen,et al.  Development of the autoinflammatory disease damage index (ADDI) , 2016, Pediatric Rheumatology.

[44]  L. León,et al.  EULAR/PReS standards and recommendations for the transitional care of young people with juvenile-onset rheumatic diseases , 2016, Annals of the rheumatic diseases.

[45]  E. Hoppenreijs,et al.  The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry , 2016, Arthritis & rheumatology.

[46]  O. Ohara,et al.  Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey , 2016, Arthritis & rheumatology.

[47]  S. Ozen,et al.  Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS) , 2016, Annals of the rheumatic diseases.

[48]  Y. Zurynski,et al.  Cryopyrin‐associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics , 2016, Journal of paediatrics and child health.

[49]  N. Hartmann,et al.  Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome , 2016, Annals of the rheumatic diseases.

[50]  A. Martini,et al.  Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study , 2016, Annals of the rheumatic diseases.

[51]  M. Zierhut,et al.  NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms , 2016, The Journal of Rheumatology.

[52]  S. Ozen,et al.  Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children. , 2016, Clinical and experimental rheumatology.

[53]  H. Olivecrona,et al.  Long-term safety profile of anakinra in patients with severe cryopyrin-associated periodic syndromes , 2016, Rheumatology.

[54]  N. Blank,et al.  Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome. , 2016, Rheumatology.

[55]  D. Maucort-Boulch,et al.  Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency , 2016, Medicine.

[56]  D. Kastner,et al.  EULAR recommendations for the management of familial Mediterranean fever , 2016, Annals of the rheumatic diseases.

[57]  S. Plontke,et al.  Early detection of sensorineural hearing loss in Muckle-Wells-syndrome , 2015, Pediatric Rheumatology.

[58]  R. Touraine,et al.  Musculoskeletal Symptoms in Patients With Cryopyrin‐Associated Periodic Syndromes: A Large Database Study , 2015, Arthritis & rheumatology.

[59]  I. Jéru,et al.  On-demand treatment with anakinra: a treatment option for selected TRAPS patients. , 2015, Rheumatology.

[60]  I. Koné-Paut,et al.  Current treatment recommendations and considerations for cryopyrin-associated periodic syndrome , 2015, Expert review of clinical immunology.

[61]  I. Koné-Paut,et al.  A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency. , 2015, Joint, bone, spine : revue du rhumatisme.

[62]  B. Ertl-Wagner,et al.  Expanding spectrum of neurologic manifestations in patients with NLRP3 low-penetrance mutations , 2015, Neurology: Neuroimmunology & Neuroinflammation.

[63]  A. Ventura,et al.  Different presentations of mevalonate kinase deficiency: a case series. , 2015, Clinical and experimental rheumatology.

[64]  O. Ohara,et al.  Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. , 2015, Annals of the rheumatic diseases.

[65]  J. Marriott,et al.  Paediatric pharmacokinetics: key considerations. , 2015, British journal of clinical pharmacology.

[66]  I. Touitou,et al.  Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey , 2015, Orphanet Journal of Rare Diseases.

[67]  M. Sormani,et al.  Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers , 2015, Annals of the rheumatic diseases.

[68]  D. Kastner,et al.  Brief Report: Anakinra Use During Pregnancy in Patients With Cryopyrin‐Associated Periodic Syndromes , 2014, Arthritis & rheumatology.

[69]  M. Dougados,et al.  2014 Update of the EULAR standardised operating procedures for EULAR-endorsed recommendations , 2014, Annals of the rheumatic diseases.

[70]  P. Woo,et al.  Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry , 2014, Annals of the rheumatic diseases.

[71]  J. Butman,et al.  A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease , 2014, Annals of the rheumatic diseases.

[72]  I. Marie,et al.  Challenges in Diagnosing Muckle‐Wells Syndrome: Identifying Two Distinct Phenotypes , 2014, Arthritis care & research.

[73]  P. Hawkins,et al.  Efficacy and safety of canakinumab therapy in paediatric patients with cryopyrin-associated periodic syndrome: a single-centre, real-world experience. , 2014, Rheumatology.

[74]  D. Rigante,et al.  Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level , 2013, Rheumatology International.

[75]  M. Sormani,et al.  Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes , 2013, Annals of the rheumatic diseases.

[76]  I. Touitou,et al.  The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry , 2013, Annals of the rheumatic diseases.

[77]  R. Goldbach-Mansky,et al.  Monogenic autoinflammatory diseases: concept and clinical manifestations. , 2013, Clinical immunology.

[78]  D. Foell,et al.  Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens , 2013, Arthritis Research & Therapy.

[79]  H. Takada,et al.  Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results). , 2013, Clinical and experimental rheumatology.

[80]  S. Plontke,et al.  Hearing loss in Muckle-Wells syndrome. , 2013, Arthritis and rheumatism.

[81]  A. Martini,et al.  The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age , 2013, Arthritis Research & Therapy.

[82]  Y. Soo,et al.  Long-term efficacy and safety profile of rilonacept in the treatment of cryopryin-associated periodic syndromes: results of a 72-week open-label extension study. , 2012, Clinical therapeutics.

[83]  T. Niehues,et al.  Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children , 2012, Rheumatology International.

[84]  S. Paul,et al.  Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes. , 2012, Arthritis and rheumatism.

[85]  S. Özen,et al.  Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review , 2012, Annals of the rheumatic diseases.

[86]  S. Plontke,et al.  Progressive familial hearing loss in Muckle-Wells syndrome , 2012, Acta oto-laryngologica.

[87]  R. Goldbach-Mansky,et al.  Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis. , 2012, Archives of dermatology.

[88]  J. B. Oliveira,et al.  Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study , 2012, Journal of Clinical Immunology.

[89]  K. Thomas,et al.  Deficiency of interleukin-1-receptor antagonist syndrome: a rare auto-inflammatory condition that mimics multiple classic radiographic findings , 2012, Pediatric Radiology.

[90]  D. Kastner,et al.  Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study. , 2012, Arthritis and rheumatism.

[91]  J. Yagüe,et al.  Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience , 2012, Clinical Rheumatology.

[92]  E. Erken,et al.  Different clinical presentation of the hyperimmunoglobulin D syndrome (HIDS) (four cases from Turkey) , 2012, Clinical Rheumatology.

[93]  P. Hawkins,et al.  Sustained remission of symptoms and improved health-related quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab: results of a double-blind placebo-controlled randomized withdrawal study , 2011, Arthritis research & therapy.

[94]  G. Dannecker,et al.  NLRP3 E311K mutation in a large family with Muckle-Wells syndrome - description of a heterogeneous phenotype and response to treatment , 2011, Arthritis research & therapy.

[95]  Michael P. Brown,et al.  A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil. , 2011, Arthritis and rheumatism.

[96]  M. van Gijn,et al.  Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence. , 2011, Clinical and experimental rheumatology.

[97]  O. Ohara,et al.  High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. , 2011, Arthritis and rheumatism.

[98]  D. Foell,et al.  Extended Report , 2022 .

[99]  P. Hawkins,et al.  Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes , 2011, Annals of the rheumatic diseases.

[100]  J. van der Meer,et al.  On-demand anakinra treatment is effective in mevalonate kinase deficiency , 2011, Annals of the rheumatic diseases.

[101]  J. Butman,et al.  Cryopyrin-Associated Periodic Syndromes , 2011, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

[102]  P. Jégo,et al.  Mevalonate Kinase Deficiency: A Survey of 50 Patients , 2011, Pediatrics.

[103]  M. Sormani,et al.  Long-Term Clinical Profile of Children With the Low-Penetrance R92Q Mutation of the TNFRSF1A Gene , 2011, Arthritis and rheumatism.

[104]  D. Foell,et al.  Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. , 2011, Arthritis and rheumatism.

[105]  A. Chakraborty,et al.  Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS) , 2011, Arthritis Research & Therapy.

[106]  A. Plebani,et al.  Favourable and sustained response to anakinra in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with or without AA amyloidosis , 2010, Annals of the rheumatic diseases.

[107]  A. Koitschev,et al.  Risk factors for severe Muckle-Wells syndrome. , 2010, Arthritis and rheumatism.

[108]  A. Fabre,et al.  Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France , 2010, Annals of the rheumatic diseases.

[109]  J. Pouchot,et al.  Extended Report , 2022 .

[110]  A. Martini,et al.  Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra. , 2010, The Journal of pediatrics.

[111]  N. Jayaprakash,et al.  The serum and cerebrospinal fluid pharmacokinetics of anakinra after intravenous administration to non-human primates , 2010, Journal of Neuroimmunology.

[112]  L. Ginsberg,et al.  Neurologic manifestations of the cryopyrin-associated periodic syndrome , 2010, Neurology.

[113]  M. McDermott,et al.  Imaging evidence for persistent subclinical fasciitis and arthritis in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) between febrile attacks , 2009, Annals of the Rheumatic Diseases.

[114]  M. Sormani,et al.  Differentiating PFAPA Syndrome From Monogenic Periodic Fevers , 2009, Pediatrics.

[115]  R. von Kries,et al.  Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics. , 2009, Rheumatology.

[116]  Seth L Masters,et al.  Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). , 2009, Annual review of immunology.

[117]  J. Drenth,et al.  Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome , 2008, Medicine.

[118]  G. Yancopoulos,et al.  Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. , 2008, Arthritis and rheumatism.

[119]  D. Kastner,et al.  A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome. , 2008, Arthritis and rheumatism.

[120]  F. Wolfe,et al.  Cryopyrin-associated periodic syndromes: development of a patient-reported outcomes instrument to assess the pattern and severity of clinical disease activity* , 2008, Current medical research and opinion.

[121]  A. Plebani,et al.  Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. , 2008, Arthritis and rheumatism.

[122]  S. Sicherer,et al.  Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition , 2007, Pediatrics.

[123]  N. Ravet,et al.  Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. , 2007, Rheumatology.

[124]  Z. Quezado,et al.  The Anesthetic Management of Children with Neonatal-Onset Multi-System Inflammatory Disease , 2007, Anesthesia and analgesia.

[125]  E. Remmers,et al.  The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. , 2007, Arthritis and rheumatism.

[126]  A. Martini,et al.  Clinical and genetic characterization of Italian patients affected by CINCA syndrome. , 2007, Rheumatology.

[127]  A. Poznanski,et al.  Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA) , 2007, Pediatric Radiology.

[128]  I. Touitou,et al.  A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients , 2006, Annals of the rheumatic diseases.

[129]  N. Ravet,et al.  Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene , 2006, Annals of the rheumatic diseases.

[130]  R. Ravazzolo,et al.  Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications. , 2006, Arthritis and rheumatism.

[131]  A. Ventura,et al.  Diagnostic challenge of hyper-IgD syndrome in four children with inflammatory gastrointestinal complaints , 2006, Scandinavian journal of gastroenterology.

[132]  R. Ravazzolo,et al.  MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever , 2005, European Journal of Human Genetics.

[133]  T. Zuberbier,et al.  Muckle–Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred , 2004, The British journal of dermatology.

[134]  A. Fischer,et al.  Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. , 2004, Blood.

[135]  F. Martinon,et al.  NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. , 2004, Immunity.

[136]  P. Hawkins,et al.  AA amyloidosis complicating the hereditary periodic fever syndromes. , 2003, Arthritis and rheumatism.

[137]  W. Dolen,et al.  A large kindred with familial cold autoinflammatory syndrome. , 2003, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

[138]  E. Remmers,et al.  De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. , 2002, Arthritis and rheumatism.

[139]  J. Bertin,et al.  PYPAF7, a Novel PYRIN-containing Apaf1-like Protein That Regulates Activation of NF-κB and Caspase-1-dependent Cytokine Processing* , 2002, The Journal of Biological Chemistry.

[140]  A. Fischer,et al.  Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. , 2002, American journal of human genetics.

[141]  D. Scott,et al.  New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. , 2002, American journal of human genetics.

[142]  L. Cuisset,et al.  Molecular Analysis of the Mevalonate Kinase Gene in a Cohort of Patients with the Hyper-IgD and Periodic Fever Syndrome: Its Application as a Diagnostic Tool , 2001, Annals of Internal Medicine.

[143]  H. Waterham,et al.  Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. , 2001, Rheumatology.

[144]  D. Kastner,et al.  Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. , 2000, Archives of dermatology.

[145]  A. Prieur,et al.  Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. , 2000, Archives of ophthalmology.

[146]  H. Waterham,et al.  Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome , 2000, Journal of Inherited Metabolic Disease.

[147]  Ian Todd,et al.  Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes , 1999, Cell.

[148]  M. Pras,et al.  Familial Mediterranean fever and hyperimmunoglobulinemia D syndrome: two diseases with distinct clinical, serologic, and genetic features. , 1997, The Journal of rheumatology.

[149]  M. Daha,et al.  Immunoglobulin D enhances the release of tumour necrosis factor‐α, and interleukin‐1β as well as interleukin‐1 receptor antagonist from human mononuclear cells , 1996, Immunology.

[150]  E. Mariman,et al.  Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever , 1994, Human Genetics.

[151]  J. V. D. van der Meer,et al.  Hyperimmunoglobulinemia D and Periodic Fever Syndrome: The Clinical Spectrum in a Series of 50 Patients , 1994, Medicine.

[152]  R. Derksen,et al.  Arthritis in hyperimmunoglobulinaemia D. , 1993, Annals of the rheumatic diseases.

[153]  Á. Haraldsson,et al.  Immunological studies in the hyper-immunoglobulin D syndrome , 1992, Journal of Clinical Immunology.

[154]  R. Furth,et al.  HYPERIMMUNOGLOBULINAEMIA D AND PERIODIC FEVER: A NEW SYNDROME , 1984, The Lancet.

[155]  T. Muckle,et al.  Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. , 1962, The Quarterly journal of medicine.

[156]  H. Rusk,et al.  A CASE OF COLD URTICARIA WITH AN UNUSUAL FAMILY HISTORY , 1940 .

[157]  L. Goffin,et al.  Canakinumab provides rapid and sustained long-term efficacy and safety in patients with cryopyrin-associated periodic syndrome aged ≤5 years. , 2019, Arthritis & rheumatology.

[158]  Kitty O’Hare,et al.  Improving the Transition from Pediatric to Adult Care for Adolescents and Young Adults with Autoinflammatory Diseases , 2019, Auto-Inflammatory Syndromes.

[159]  H. Takada,et al.  Long-term safety and efficacy of canakinumab in cryopyrin-associated periodic syndrome: results from an open-label, phase III pivotal study in Japanese patients. , 2017, Clinical and experimental rheumatology.

[160]  H. Waterham,et al.  Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD). , 2016, JIMD reports.

[161]  Alison Johnson,et al.  On-demand treatment with anakinra : a treatment option for selected TRAPS patients , 2015 .

[162]  Oxford Centre for Evidence-based Medicine Levels of Evidence (January 2001) , 2014 .

[163]  R. Panush.  An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist , 2011 .

[164]  C. Bodemer,et al.  Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. , 2010, Arthritis and rheumatism.

[165]  J. de Dios García-Díaz,et al.  High IgD could be a nonpathogenetic diagnostic marker of the hyper-IgD and periodic fever syndrome. , 2001, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

[166]  J. V. D. van der Meer,et al.  Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group. , 1994, Archives of dermatology.

[167]  C. Griscelli,et al.  A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. , 1987, Scandinavian journal of rheumatology. Supplement.