Adult-Onset Autoinflammatory Syndromes.

[1]  M. Swertz,et al.  New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) , 2018, Journal of Medical Genetics.

[2]  D. Kastner,et al.  The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation , 2017, Nature Immunology.

[3]  Q. Yao,et al.  Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. , 2016, Seminars in arthritis and rheumatism.

[4]  P. Tighe,et al.  The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway , 2015, Arthritis Research & Therapy.

[5]  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.

[6]  L. Punzi,et al.  The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and long-term follow-up. , 2014, Seminars in arthritis and rheumatism.

[7]  S. Ozen,et al.  A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin , 2014, Nature Reviews Rheumatology.

[8]  M. Galeazzi,et al.  Childhood versus adulthood-onset autoinflammatory disorders: myths and truths intertwined. , 2013, Reumatismo.

[9]  I. Millán,et al.  Nephrotic Syndrome and AA Amyloidosis Revealing Adult-Onset Cryopyrin-Associated Periodic Syndrome , 2013, Renal failure.

[10]  R. Cimaz,et al.  Tumour necrosis factor receptor-associated periodic syndrome (TRAPS): state of the art and future perspectives. , 2012, Autoimmunity reviews.

[11]  F. Iacoponi,et al.  The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature. , 2012, Autoimmunity reviews.

[12]  D. Kastner,et al.  Lighting the fires within: the cell biology of autoinflammatory diseases , 2012, Nature Reviews Immunology.

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

[14]  D. Kastner,et al.  Efficacy of Etanercept in the Tumor Necrosis Factor Receptor–Associated Periodic Syndrome (TRAPS) , 2012 .

[15]  C. Wouters,et al.  An International registry on Autoinflammatory diseases: the Eurofever experience , 2012, Annals of the rheumatic diseases.

[16]  F. Retornaz,et al.  Interleukin-1 targeting drugs in familial Mediterranean fever: a case series and a review of the literature. , 2011, Seminars in arthritis and rheumatism.

[17]  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.

[18]  S. Bombardieri,et al.  Validation of a Diagnostic Score for the Diagnosis of Autoinflammatory Diseases in Adults , 2011, International journal of immunopathology and pharmacology.

[19]  D. Kastner,et al.  Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice. , 2011, Immunity.

[20]  S. Özen,et al.  Anti-Interleukin 1 Treatment for Patients with Familial Mediterranean Fever Resistant to Colchicine , 2011, The Journal of Rheumatology.

[21]  F. Zamani,et al.  Adult-Onset Familial Mediterranean Fever in Northwestern Iran; Clinical Feature and Treatment Outcome , 2011, Middle East journal of digestive diseases.

[22]  F. Iacoponi,et al.  Development and Preliminary Validation of a Diagnostic Score for Identifying Patients Affected with Adult-Onset Autoinflammatory Disorders , 2010, International journal of immunopathology and pharmacology.

[23]  D. Kastner,et al.  Autoinflammatory Disease Reloaded: A Clinical Perspective , 2010, Cell.

[24]  M. Pras,et al.  Clinical disease among patients heterozygous for familial Mediterranean fever. , 2009, Arthritis and rheumatism.

[25]  S. Ozen.  Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? , 2009, Arthritis and rheumatism.

[26]  H. Takada,et al.  Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. , 2008, Blood.

[27]  E. Drewe,et al.  Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). , 2007, Rheumatology.

[28]  H. Yazıcı,et al.  Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents. , 2006, Clinical and experimental rheumatology.

[29]  F. Onen.  Familial Mediterranean fever , 2006, Rheumatology International.

[30]  M. Inanç,et al.  Characteristics of patients with adult‐onset familial Mediterranean fever in Turkey: analysis of 401 cases , 2004, International journal of clinical practice.

[31]  R. Gershoni-baruch,et al.  Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization. , 2004, Seminars in arthritis and rheumatism.

[32]  D. Kastner,et al.  The TNF Receptor-Associated Periodic Syndrome (TRAPS): Emerging Concepts of an Autoinflammatory Disorder , 2002, Medicine.

[33]  T. Shohat,et al.  Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel. , 1995, American journal of medical genetics.

[34]  J. Yagüe,et al.  Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center. , 2016, Autoimmunity reviews.

[35]  I. Koné-Paut.  [Cryopyrine-associated periodic syndrome: CAPS seen from adulthood]. , 2015, La Revue de medecine interne.

[36]  A. Bakkaloğlu,et al.  Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population , 2001, European Journal of Human Genetics.