List of works - Antonella Insalaco

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes.

scientific article

A Snapshot on the On-Label and Off-Label Use of the Interleukin-1 Inhibitors in Italy among Rheumatologists and Pediatric Rheumatologists: A Nationwide Multi-Center Retrospective Observational Study.

scientific article published on 24 October 2016

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

scientific article published on 23 April 2018

A national cohort study on pediatric Behçet's disease: cross-sectional data from an Italian registry

scientific article published on 21 December 2017

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

scientific article published on 10 October 2019

A novel mutation in the CIAS1/NLRP3 gene associated with an unexpected phenotype of cryopyrin-associated periodic syndromes.

scientific article

A patient with stimulator of interferon genes-associated vasculopathy with onset in infancy without skin vasculopathy

scientific article published on 01 April 2020

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

scientific article published on 18 May 2017

Abnormal production of tumor necrosis factor (TNF) -- alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome [corrected]

scientific article published on 01 December 2004

An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome

scientific article published on 22 May 2019

Anakinra Drug Retention Rate and Predictive Factors of Long-Term Response in Systemic Juvenile Idiopathic Arthritis and Adult Onset Still Disease

scientific article published on 23 August 2019

Anakinra in Systemic Juvenile Idiopathic Arthritis: A Single-center Experience

scientific article published in June 2015

Anakinra in a Cohort of Children with Chronic Nonbacterial Osteomyelitis

scientific article published on 15 June 2017

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever

scientific article published on 20 April 2020

Chronic nonbacterial osteomyelitis - clinical and magnetic resonance imaging features

scientific article published on 09 October 2020

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

scientific article published on April 2016

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

scientific article published on 07 August 2020

Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

scientific article published on 05 July 2019

Clinical features, treatment, and outcome of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a multinational, multicenter study of 362 patients.

scientific article published on November 2014

Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population

scientific article published on 12 May 2012

Clinical overview and outcome in a cohort of children with polyarteritis nodosa

scientific article published on 11 February 2014

Clinical presentation and cytokine production abnormalities in a cohort of patients carrying NLRP12 gene variants

scientific article published on 17 September 2014

Correction to: A national cohort study on pediatric Behçet's disease: cross-sectional data from an Italian registry.

scientific article published on 23 April 2018

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

scientific article

Dealing with Chronic Non-Bacterial Osteomyelitis: a practical approach.

scientific article published on 29 December 2017

Deregulation of IL-1β axis in peripheral blood mononuclear cells from patients with Chronic Recurrent Multifocal Osteomyelitis.

scientific article published on 14 September 2011

Deregulation of the IL-1β axis in chronic recurrent multifocal osteomyelitis

scientific article

Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome

scientific article published on 11 August 2017

Development of the autoinflammatory disease damage index (ADDI).

scientific article published on 3 November 2016

Diagnosis, prognosis and treatment of "myocardial bridging": state of the art and unresolved issues

scientific article

Different presentations of mevalonate kinase deficiency: a case series

scientific article

Disease status, reasons for discontinuation and adverse events in 1038 Italian children with juvenile idiopathic arthritis treated with etanercept

scientific article published on 20 December 2016

Drug Retention Rate and Predictive Factors of Drug Survival for Interleukin-1 Inhibitors in Systemic Juvenile Idiopathic Arthritis

scientific article published on 01 January 2018

Dysregulation in B cell responses and T follicular helper cell function in ADA2 deficiency patients

scientific article published on 24 July 2020

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

scientific article published on 29 May 2019

Evaluation of the disease course of Italian children with juvenile idiopathic arthritis treated with etanercept: preliminary results in 772 patients

scientific article published on 17 September 2014

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

scientific article published on 30 January 2015

Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

scientific article

Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1.

scientific article published on 19 June 2017

Herpes Virus Infections During Treatment With Etanercept in Juvenile Idiopathic Arthritis

scientific article

High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)

scientific article published on 10 July 2020

In silico validation of the Autoinflammatory Disease Damage Index

scholarly article by Nienke M ter Haar et al published 4 August 2018 in Annals of the Rheumatic Diseases

Inflammatory events during food protein-induced enterocolitis syndrome reactions

scientific article published on 4 April 2017

Infliximab therapy in pediatric Takayasu’s arteritis: report of two cases

scientific article published on 23 October 2009

Intra-articular corticosteroids versus intra-articular corticosteroids plus methotrexate in oligoarticular juvenile idiopathic arthritis: a multicentre, prospective, randomised, open-label trial.

scientific article published on 2 February 2017

Involvement of the IFN-gamma pathway in a patient with candle syndrome carrying a novel variant of PSMB8 gene

scientific article published on 17 September 2014

Long-Term Efficacy of Interleukin-1 Receptor Antagonist (Anakinra) in Corticosteroid-Dependent and Colchicine-Resistant Recurrent Pericarditis

scientific article published on 12 March 2014

Long-lasting memory-resting and memory-effector CD4+ T cells in human X-linked agammaglobulinemia

scientific article

Longitudinal myelitis in systemic lupus erythematosus: a paediatric case.

scientific article published on 27 July 2011

Macrophage activation syndrome in juvenile idiopathic arthritis

scientific article published on July 2006

Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome

scientific article published on 01 May 2006

Movement disorders in ADAR1 disease: Insights from a comprehensive cohort

scientific article published on 30 August 2020

Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.

scientific article

Mutations of familial hemophagocytic lymphohistiocytosis (FHL) related genes and abnormalities of cytotoxicity function tests in patients with macrophage activation syndrome (MAS) occurring in systemic juvenile idiopathic arthritis (sJIA).

scientific article published on 17 September 2014

Mutations ofCD40gene cause an autosomal recessive form of immunodeficiency with hyper IgM ⬇️

scientific article published on October 23, 2001

Necrosis of the tongue as first symptom of Polyarteritis Nodosa (PAN): unusual presentation of a rare disease in children

scientific article published on 7 December 2010

Necrotizing fasciitis in a pediatric patient treated with etanercept and cyclosporine for macrophage activation syndrome.

scientific article

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

scientific article published on 17 September 2015

Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry

scientific article published on 15 November 2015

Pharmacological inhibition of TLR9 activation blocks autoantibody production in human B cells from SLE patients.

scientific article published on 25 August 2010

Phase 3 Trial of Interleukin-1 Trap Rilonacept in Recurrent Pericarditis

scientific article published on 16 November 2020

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

scientific article

Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke.

scientific article

Prevalence of cranial involvement in a cohort of Italian patients with chronic non-bacterial osteomyelitis

scientific article published on 29 January 2020

Recurrent pericarditis in children and adolescents: a multicentre cohort study

scientific article published on September 2016

Relapsing polychondritis: new therapeutic strategies with biological agents

scientific article published on 15 August 2009

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

scientific article published on 5 March 2013

Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network

scientific article published on 27 May 2020

Safety and efficacy of etanercept in a cohort of patients with juvenile idiopathic arthritis under 4 years of age.

scientific article published on 15 May 2012

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

scientific article published on 17 May 2018

Severe osteoarticular involvement in isotretinoin-triggered acne fulminans: two cases successfully treated with anakinra.

scientific article

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

scientific article

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies

scientific article published on 04 September 2019

The interferon-gamma pathway is selectively up-regulated in the liver of patients with secondary hemophagocytic lymphohistiocytosis

scientific article published on 17 December 2019

The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry

scientific article published on 30 April 2018

The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry

scientific article published on 27 March 2018

The phenotypic variability of PAPA syndrome: evidence from the Eurofever Registry.

scientific article

The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age.

scientific article published on 26 February 2013

Therapeutic approaches for the treatment of renal disease in juvenile systemic lupus erythematosus: an international multicentre PRINTO study

scientific article published on 25 October 2012

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

scientific article

Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency

scientific article published on 15 January 2019

Whole-Body MRI versus bone scintigraphy: which is the best diagnostic tool in patients with chronic recurrent multifocal osteomyelitis (CRMO)?

scientific article

List of works by Antonella Insalaco

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes.

A Snapshot on the On-Label and Off-Label Use of the Interleukin-1 Inhibitors in Italy among Rheumatologists and Pediatric Rheumatologists: A Nationwide Multi-Center Retrospective Observational Study.

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

A national cohort study on pediatric Behçet's disease: cross-sectional data from an Italian registry

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

A novel mutation in the CIAS1/NLRP3 gene associated with an unexpected phenotype of cryopyrin-associated periodic syndromes.

A patient with stimulator of interferon genes-associated vasculopathy with onset in infancy without skin vasculopathy

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

Abnormal production of tumor necrosis factor (TNF) -- alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome [corrected]

An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome

Anakinra Drug Retention Rate and Predictive Factors of Long-Term Response in Systemic Juvenile Idiopathic Arthritis and Adult Onset Still Disease

Anakinra in Systemic Juvenile Idiopathic Arthritis: A Single-center Experience

Anakinra in a Cohort of Children with Chronic Nonbacterial Osteomyelitis

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever

Chronic nonbacterial osteomyelitis - clinical and magnetic resonance imaging features

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

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

Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

Clinical features, treatment, and outcome of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a multinational, multicenter study of 362 patients.

Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population

Clinical overview and outcome in a cohort of children with polyarteritis nodosa

Clinical presentation and cytokine production abnormalities in a cohort of patients carrying NLRP12 gene variants

Correction to: A national cohort study on pediatric Behçet's disease: cross-sectional data from an Italian registry.

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

Dealing with Chronic Non-Bacterial Osteomyelitis: a practical approach.

Deregulation of IL-1β axis in peripheral blood mononuclear cells from patients with Chronic Recurrent Multifocal Osteomyelitis.

Deregulation of the IL-1β axis in chronic recurrent multifocal osteomyelitis

Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome

Development of the autoinflammatory disease damage index (ADDI).

Diagnosis, prognosis and treatment of "myocardial bridging": state of the art and unresolved issues

Different presentations of mevalonate kinase deficiency: a case series

Disease status, reasons for discontinuation and adverse events in 1038 Italian children with juvenile idiopathic arthritis treated with etanercept

Drug Retention Rate and Predictive Factors of Drug Survival for Interleukin-1 Inhibitors in Systemic Juvenile Idiopathic Arthritis

Dysregulation in B cell responses and T follicular helper cell function in ADA2 deficiency patients

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

Evaluation of the disease course of Italian children with juvenile idiopathic arthritis treated with etanercept: preliminary results in 772 patients

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1.

Herpes Virus Infections During Treatment With Etanercept in Juvenile Idiopathic Arthritis

High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)

In silico validation of the Autoinflammatory Disease Damage Index

Inflammatory events during food protein-induced enterocolitis syndrome reactions

Infliximab therapy in pediatric Takayasu’s arteritis: report of two cases

Intra-articular corticosteroids versus intra-articular corticosteroids plus methotrexate in oligoarticular juvenile idiopathic arthritis: a multicentre, prospective, randomised, open-label trial.

Involvement of the IFN-gamma pathway in a patient with candle syndrome carrying a novel variant of PSMB8 gene

Long-Term Efficacy of Interleukin-1 Receptor Antagonist (Anakinra) in Corticosteroid-Dependent and Colchicine-Resistant Recurrent Pericarditis

Long-lasting memory-resting and memory-effector CD4+ T cells in human X-linked agammaglobulinemia

Longitudinal myelitis in systemic lupus erythematosus: a paediatric case.

Macrophage activation syndrome in juvenile idiopathic arthritis

Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome

Movement disorders in ADAR1 disease: Insights from a comprehensive cohort

Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.

Mutations of familial hemophagocytic lymphohistiocytosis (FHL) related genes and abnormalities of cytotoxicity function tests in patients with macrophage activation syndrome (MAS) occurring in systemic juvenile idiopathic arthritis (sJIA).

Mutations ofCD40gene cause an autosomal recessive form of immunodeficiency with hyper IgM ⬇️

Necrosis of the tongue as first symptom of Polyarteritis Nodosa (PAN): unusual presentation of a rare disease in children

Necrotizing fasciitis in a pediatric patient treated with etanercept and cyclosporine for macrophage activation syndrome.

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry

Pharmacological inhibition of TLR9 activation blocks autoantibody production in human B cells from SLE patients.

Phase 3 Trial of Interleukin-1 Trap Rilonacept in Recurrent Pericarditis

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

Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke.

Prevalence of cranial involvement in a cohort of Italian patients with chronic non-bacterial osteomyelitis

Recurrent pericarditis in children and adolescents: a multicentre cohort study

Relapsing polychondritis: new therapeutic strategies with biological agents

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

Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network

Safety and efficacy of etanercept in a cohort of patients with juvenile idiopathic arthritis under 4 years of age.

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

Severe osteoarticular involvement in isotretinoin-triggered acne fulminans: two cases successfully treated with anakinra.

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

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies

The interferon-gamma pathway is selectively up-regulated in the liver of patients with secondary hemophagocytic lymphohistiocytosis

The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry

The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry

The phenotypic variability of PAPA syndrome: evidence from the Eurofever Registry.

The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age.

Therapeutic approaches for the treatment of renal disease in juvenile systemic lupus erythematosus: an international multicentre PRINTO study