Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases (Q89819649)

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8 April 2020

review article

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title

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases (English)

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8 April 2020

2

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8 April 2020

Antonio Vitale

3

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8 April 2020

Orso Maria Lucherini

4

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8 April 2020

Alessandra Renieri

11

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8 April 2020

Luca Cantarini

12

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8 April 2020

10

Bruno Frediani

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8 April 2020

8

Viviana Gelardi

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8 April 2020

author name string

Carla Gaggiano

1

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8 April 2020

Alessandra Fabbiani

5

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8 April 2020

Giovanna Capozio

6

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8 April 2020

Chiara Marzo

7

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8 April 2020

Salvatore Grosso

9

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8 April 2020

publication date

31 December 2019

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Mediators of Inflammation

8 April 2020

published in

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8 April 2020

volume

2019

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8 April 2020

page(s)

3293145

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Creative Commons Attribution 4.0 International

8 April 2020

copyright license

start time

31 December 2019

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April 2022 Public Data File from Crossref

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copyrighted

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April 2022 Public Data File from Crossref

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The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever

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Long-term follow-up of IgM monoclonal gammopathy of undetermined significance

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12 December 2020

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes

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12 December 2020

Fundal changes resembling colloid bodies in recurrent polyserositis (periodic disease).

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12 December 2020

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU

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12 December 2020

Abdominal and digestive system associations of familial Mediterranean fever

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Etanercept induces improvement of arthropathy in chronic infantile neurological cutaneous articular (CINCA) syndrome

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MEFV mutations in familial Mediterranean fever: association of M694V homozygosity with arthritis

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NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder

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Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study

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Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases

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Arthritis as the sole episodic manifestation of familial Mediterranean fever.

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Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-kappaB activation.

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The tumour necrosis factor receptor-associated periodic syndrome: current concepts

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Familial Mediterranean fever.

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Retinitis pigmentosa in mevalonate kinase deficiency

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Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications

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Hydrocephalus in CINCA syndrome treated with anakinra

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Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene

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12 December 2020

Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)

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The clinical spectrum and treatment options of macrophage activation syndrome in the pediatric age.

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A novel missense mutation in tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene found in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) manifesting adult-onset Still disease-like skin eruptions: report of a case and

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Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome

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MEFV gene mutations and its impact on the clinical course in ulcerative colitis patients

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The association of inflammatory bowel disease and Mediterranean fever gene (MEFV) mutations in Turkish children

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Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1beta secretion

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12 December 2020

Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome

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12 December 2020

Sacroileitis and pericarditis: atypical presentation of tumor necrosis factor receptor-associated periodic syndrome and response to etanercept therapy

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12 December 2020

Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation.

1 reference

12 December 2020

Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France

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12 December 2020

Role of autoimmunity and autoinflammation in the pathogenesis of idiopathic recurrent pericarditis

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12 December 2020

Long-term response after 6-year treatment with anakinra and onset of focal bone erosion in neonatal-onset multisystem inflammatory disease (NOMID/CINCA)

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12 December 2020

Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)

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12 December 2020

Autoinflammatory diseases and cardiovascular manifestations.

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12 December 2020

Monogenic autoinflammatory syndromes at a dermatological level

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12 December 2020

Ocular modifications in a young girl with cryopyrin-associated periodic syndromes responding to interleukin-1 receptor antagonist anakinra.

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12 December 2020

Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice

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12 December 2020

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study

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12 December 2020

Mevalonate kinase deficiency: a survey of 50 patients.

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12 December 2020

Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

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12 December 2020

Clinical and biochemical landmarks in systemic autoinflammatory diseases

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12 December 2020

Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults.

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12 December 2020

The fresco of autoinflammatory diseases from the pediatric perspective

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12 December 2020

Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes

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12 December 2020

Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study

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12 December 2020

Diagnosis of PFAPA syndrome applied to a cohort of 17 adults with unexplained recurrent fevers.

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Liver involvement in children with Familial Mediterranean fever

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12 December 2020

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

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Involvement of X-box binding protein 1 and reactive oxygen species pathways in the pathogenesis of tumour necrosis factor receptor-associated periodic syndrome

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12 December 2020

The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature

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12 December 2020

Amyloidosis in autoinflammatory syndromes

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12 December 2020

Tumour necrosis factor receptor-associated periodic syndrome (TRAPS): state of the art and future perspectives

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12 December 2020

A case of resistant adult-onset periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome responsive to anakinra

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12 December 2020

Common Mediterranean fever (MEFV) gene mutations associated with ankylosing spondylitis in Turkish population

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12 December 2020

Behçet's disease: features of neurological involvement in a dedicated centre in Italy

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12 December 2020

Mevalonate kinase deficiency, a metabolic autoinflammatory disease.

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Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS).

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Genetic loss of murine pyrin, the Familial Mediterranean Fever protein, increases interleukin-1β levels

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12 December 2020

Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant.

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Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children

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Schnitzler's syndrome: diagnosis, treatment, and follow-up

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12 December 2020

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

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12 December 2020

Increased NLRP3-dependent interleukin 1β secretion in patients with familial Mediterranean fever: correlation with MEFV genotype

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12 December 2020

Caution Should be Used in the Recognition of Adult-Onset Autoinflammatory Disorders: Facts or Fiction?

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12 December 2020

Association between MEFV gene mutations and recurrent aphthous stomatitis in a cohort of Turkish patients

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12 December 2020

Childhood versus adulthood-onset autoinflammatory disorders: myths and truths intertwined.

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12 December 2020

The most recent advances in pathophysiology and management of tumour necrosis factor receptor-associated periodic syndrome (TRAPS): personal experience and literature review

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12 December 2020

The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry

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12 December 2020

From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases

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12 December 2020

First report of circulating microRNAs in tumour necrosis factor receptor-associated periodic syndrome (TRAPS).

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12 December 2020

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

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12 December 2020

Functions of NOD-Like Receptors in Human Diseases

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12 December 2020

Working the endless puzzle of hereditary autoinflammatory disorders

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12 December 2020

Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians

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12 December 2020

Defects in mitochondrial clearance predispose human monocytes to interleukin-1β hypersecretion.

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12 December 2020

The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and long-term follow-up

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12 December 2020

Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation

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12 December 2020

International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients

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12 December 2020

Are MEFV mutations susceptibility factors in enthesitis-related arthritis patients in the eastern Mediterranean?

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12 December 2020

Adult-onset Still's disease

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12 December 2020

First report of keratitis in familial cold autoinflammatory syndrome

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12 December 2020

Retinal and choroidal thickness in children with familial Mediterranean fever

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12 December 2020

Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome

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12 December 2020

The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response

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12 December 2020

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

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12 December 2020

Autoimmunity and autoinflammation as the yin and yang of idiopathic recurrent acute pericarditis

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12 December 2020

Neuro-Behçet disease and autoinflammatory disorders

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12 December 2020

Current advances in the understanding and treatment of mevalonate kinase deficiency.

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12 December 2020

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

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12 December 2020

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

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PFAPA syndrome and Behçet's disease: a comparison of two medical entities based on the clinical interviews performed by three different specialists

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12 December 2020

Non-canonical manifestations of familial Mediterranean fever: a changing paradigm

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12 December 2020

Interleukin-1 as a common denominator from autoinflammatory to autoimmune disorders: premises, perils, and perspectives

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12 December 2020

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

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12 December 2020

Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.

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12 December 2020

Adult-onset autoinflammatory disorders: a still debated entity?

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12 December 2020

Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting with refractory chronic arthritis

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12 December 2020

Characteristics of Neuro-Behçet's Disease in a Case-Series from a Single Centre in Northern Portugal

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12 December 2020

Canakinumab efficacy in refractory adult-onset PFAPA syndrome

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12 December 2020

Interleukin-1: Ariadne's Thread in Autoinflammatory and Autoimmune Disorders

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12 December 2020

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center

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12 December 2020

Association Between Keratoconus and Familial Mediterranean Fever in Turkey

1 reference

12 December 2020

Differential impact of high and low penetrance TNFRSF1A gene mutations on conventional and regulatory CD4+ T cell functions in TNFR1-associated periodic syndrome.

1 reference

12 December 2020

Lights and shadows in autoinflammatory syndromes from the childhood and adulthood perspective

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12 December 2020

Choroidal Thickness Changes in the Acute Attack Period in Patients with Familial Mediterranean Fever

1 reference

12 December 2020

Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion

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12 December 2020

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study

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12 December 2020

A Comprehensive Overview of the Hereditary Periodic Fever Syndromes

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12 December 2020

Adult-onset Still's disease: an Italian multicentre retrospective observational study of manifestations and treatments in 245 patients

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12 December 2020

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

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12 December 2020

Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens

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12 December 2020

Interleukin-1 Inhibition in Behçet's disease

1 reference

12 December 2020

A comprehensive comparison between pediatric and adult patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) syndrome

1 reference

12 December 2020

Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS

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12 December 2020

Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis

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12 December 2020

Behcet's disease: epidemiology, clinical manifestations, and diagnosis.

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12 December 2020

Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.

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12 December 2020

Schnitzler syndrome: validation and applicability of diagnostic criteria in real-life patients

1 reference

12 December 2020

Behcet's syndrome in nonendemic regions

1 reference

12 December 2020

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).

1 reference

12 December 2020

Demographic, clinical and therapeutic findings in a monocentric cohort of adult patients with suspected PFAPA syndrome

1 reference

12 December 2020

One year in review 2016: Behçet's syndrome

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12 December 2020

Development of the autoinflammatory disease damage index (ADDI).

1 reference

12 December 2020

Dermatologic Manifestations of Monogenic Autoinflammatory Diseases

1 reference

12 December 2020

A case of cryopyrin-associated periodic fever syndrome due to Q703K mutation in the NLRP3 gene

1 reference

12 December 2020

Lung Involvement in Children with Hereditary Autoinflammatory Disorders

1 reference

12 December 2020

A systematic approach to autoinflammatory syndromes: a spelling booklet for the beginner

1 reference

12 December 2020

Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations

1 reference

12 December 2020

Microarray analysis of circulating microRNAs in familial Mediterranean fever.

1 reference

12 December 2020

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy

1 reference

12 December 2020

Response to Interleukin-1 Inhibitors in 140 Italian Patients with Adult-Onset Still's Disease: A Multicentre Retrospective Observational Study

1 reference

12 December 2020

Evolving Frontiers in the Treatment of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Syndrome

1 reference

12 December 2020

Diagnostic Criteria for Adult-Onset Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome

1 reference

12 December 2020

Function and mechanism of the pyrin inflammasome

1 reference

12 December 2020

New mosaic tiles in childhood hereditary autoinflammatory disorders

1 reference

12 December 2020

Alteration of the microRNA expression profile in familial Mediterranean fever patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Lack of clear and univocal genotype-phenotype correlation in Familial Mediterranean Fever patients: A systematic review

1 reference

12 December 2020

Evaluation of the effects of miRNAs in familial Mediterranean fever

1 reference

12 December 2020

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

1 reference

12 December 2020

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

1 reference

12 December 2020

Recombinant human growth hormone in neonatal-onset multisystem inflammatory disease.

1 reference

12 December 2020

The eye involvement in monogenic autoinflammatory diseases: literature review and update

1 reference

12 December 2020

Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade

1 reference

12 December 2020

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

1 reference

12 December 2020

Safety profile of the interleukin-1 inhibitors anakinra and canakinumab in real-life clinical practice: a nationwide multicenter retrospective observational study

1 reference

12 December 2020

Analysis of microRNAs in familial Mediterranean fever.

1 reference

12 December 2020

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

1 reference

12 December 2020

The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children

1 reference

12 December 2020

Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan

1 reference

12 December 2020

Treatment options for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome in children and adults: a narrative review

1 reference

12 December 2020

Exon 2: Is it the good police in familial mediterranean fever?

1 reference

12 December 2020

Potential role of pyrin, the protein mutated in familial Mediterranean fever, during inflammatory cell migration

1 reference

12 December 2020

Frequency of functional gastrointestinal disorders in children with familial Mediterranean fever

1 reference

12 December 2020

The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia

1 reference

12 December 2020

Long-term treatment with anakinra and canakinumab resolves patellar subchondral erosion in neonatal-onset multisystem inflammatory disease

1 reference

12 December 2020

Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome

1 reference

12 December 2020

Unveiling the Efficacy, Safety, and Tolerability of Anti-Interleukin-1 Treatment in Monogenic and Multifactorial Autoinflammatory Diseases

1 reference

12 December 2020

Classification criteria for autoinflammatory recurrent fevers

1 reference

12 December 2020

Familial Mediterranean Fever: Assessing the Overall Clinical Impact and Formulating Treatment Plans

1 reference

12 December 2020

Identifiers

DOI

10.1155/2019/3293145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32082075%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32082075%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

PubMed publication ID

32082075

1 reference