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List of works by Marco Gattorno

A child with a novel ACAN missense variant mimicking a septic arthritis

scientific article published on 20 November 2019

A circulating reservoir of pathogenic-like CD4+ T cells shares a genetic and phenotypic signature with the inflamed synovial micro-environment

scientific article published on 12 December 2014

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

scientific article published on 13 February 2019

A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors

scientific article published on 10 June 2019

A practical approach to the diagnosis of autoinflammatory diseases in childhood

scientific article published on April 2014

A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.

scientific article

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

scientific article published on 18 October 2017

A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review

scientific article published on 06 May 2019

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

ADA2 deficiency due to a novel structural variation in 22q11.1.

scientific article published on 28 March 2019

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

scientific article

An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome

scientific article published on 01 November 2018

An international delphi survey for the definition of the variables for the development of new classification criteria for periodic fever aphtous stomatitis pharingitis cervical adenitis (PFAPA).

scientific article published on 18 April 2018

An international registry on autoinflammatory diseases: the Eurofever experience

scientific article

Anakinra: an emerging option for refractory idiopathic recurrent pericarditis: a systematic review of published evidence

scientific article published on 18 June 2015

Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases

scientific article

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

scientific article published on 31 October 2012

Biologic drugs in autoinflammatory syndromes

scientific article published on 02 August 2012

Bone marrow-derived mesenchymal stem cells induce both polyclonal expansion and differentiation of B cells isolated from healthy donors and systemic lupus erythematosus patients.

scientific article published in February 2008

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

scientific article published in January 2017

Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome

scientific article published on 29 July 2016

Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study

scientific article published on 07 June 2016

Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene

scientific article published on April 2011

Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance

scientific article

Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis.

scientific article published in July 2005

Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review

scientific article

Chronic active EBV infection mimicking periodic fever syndromes: a new challenge for the paediatrician

scientific article published on 17 September 2014

Classification criteria for autoinflammatory recurrent fevers

scientific article published on 24 April 2019

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 characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

scientific article published on 05 July 2019

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

scientific article published on 12 May 2012

Coexpression of CD25 and CD27 identifies FoxP3+ regulatory T cells in inflamed synovia

scientific article

Critical role of STIR MRI in early detection of post-streptococcal periostitis with dysproteinaemia (Goldbloom's syndrome).

scientific article published on 23 March 2017

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

scientific article

Cytokine flexibility of early and differentiated memory T helper cells in juvenile idiopathic arthritis

scientific article published on 01 October 2004

Deficiency of adenosine deaminase 2 (DADA2) in Adults and Children: Experience from India

scientific article published on 06 September 2020

Deficient production of IL-1 receptor antagonist and IL-6 coupled to oxidative stress in cryopyrin-associated periodic syndrome monocytes

scientific article published on 29 June 2012

Dependence of immunoglobulin class switch recombination in B cells on vesicular release of ATP and CD73 ectonucleotidase activity

scientific article published on 13 June 2013

Development of the autoinflammatory disease damage index (ADDI).

scientific article published on 3 November 2016

Diagnosis and management of autoinflammatory diseases in childhood.

scientific article published on 27 March 2008

Diagnostic potential of hepcidin testing in pediatrics.

scientific article published on 26 February 2013

Differential regulation of chemokine production by Fcgamma receptor engagement in human monocytes: association of CCL1 with a distinct form of M2 monocyte activation (M2b, Type 2).

scientific article published on 30 May 2006

Differentiating PFAPA syndrome from monogenic periodic fevers

scientific article published on 28 September 2009

Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome

scientific article published on 17 March 2016

Dynamic contrast-enhanced magnetic resonance imaging in the assessment of disease activity in patients with juvenile idiopathic arthritis.

scientific article published in January 2010

Effect of Anakinra on Recurrent Pericarditis Among Patients With Colchicine Resistance and Corticosteroid Dependence: The AIRTRIP Randomized Clinical Trial.

scientific article

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

scientific article published on 29 May 2019

Ethics bureaucracy: a significant hurdle for collaborative follow-up of drug effectiveness in rare childhood diseases

scientific article published on 22 February 2012

Evidence based recommendations for diagnosis and management of mevalonate kinase defiency (MKD).

scientific article

Evidence based recommendations for diagnosis and treatment of cryopyrin-associated periodic syndromes (CAPS).

scientific article published on 17 September 2014

Evidence based recommendations for diagnosis and treatment of tumor necrosis factor receptor-1 associated periodic syndrome (TRAPS).

scientific article published on 17 September 2014

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

scientific article published on 30 January 2015

Factors associated with achievement of inactive disease in children with juvenile idiopathic arthritis treated with etanercept

scientific article published on 01 December 2012

Failure of anti Interleukin-1 β monoclonal antibody in the treatment of recurrent pericarditis in two children

scientific article published on 16 June 2020

Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra

scientific article published on 15 May 2010

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

article

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

scientific article

HLA-G and HLA-E in patients with juvenile idiopathic arthritis

scientific article published on 23 December 2010

High-dose ustekinumab for severe childhood deficiency of interleukin-36 receptor antagonist (DITRA).

scientific article published on 2 September 2017

Hypoxic synovial environment and expression of macrophage inflammatory protein 3γ/CCL20 in juvenile idiopathic arthritis

scientific article published on 01 June 2008

IL1RN Variation Influences both Disease Susceptibility and Response to Human Recombinant IL-1RA Therapy in Systemic Juvenile Idiopathic Arthritis

scientific article published on 2 April 2018

Impact of MEFV genotype in Caucasian children with periodic fever

Impact of mevalonate kinase deficiency (MKD) on the quality of life in children and young adults: a national multicentre study

scientific article published on 14 September 2011

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

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

scientific article published on 16 March 2013

Inherited autoinflammatory diseases: a critical digest of the recent literature.

scientific article

Interferon-γ-dependent inhibition of B cell activation by bone marrow-derived mesenchymal stem cells in a murine model of systemic lupus erythematosus

scientific article published on 01 September 2010

Interplay between redox status and inflammasome activation ⬇️

scientific article published on September 29, 2011

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

Juvenile eosinophilic fasciitis: three case reports with review of the literature

scientific article

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-term efficacy of etanercept in ADA2 deficiency

scientific article published on 17 September 2014

Long-term follow-up of systemic onset juvenile idiopathic arthritis patients treated with Anakinra.

scientific article published on 14 September 2011

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

scientific article published on March 2005

Management of idiopathic recurrent pericarditis in adults and in children: a role for IL-1 receptor antagonism

scientific article published on 09 April 2018

Molecular mechanisms of autophagic memory in pathogenic T cells in human arthritis

scientific article published on 01 August 2018

Monogenic polyarteritis: the lesson of ADA2 deficiency

scientific article

Murine Rankl-/- Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL-Expressing Lentiviral Vector

scientific article published on 18 January 2017

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

scientific article published in March 2006

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers

scientific article published on 01 February 2020

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers

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

scientific article published on 17 September 2015

Osteolytic lesion in PAPA syndrome responding to anti-interleukin 1 treatment

scientific article published in November 2014

Pathogen-induced human TH17 cells produce IFN-γ or IL-10 and are regulated by IL-1β.

scientific article published in April 2012

Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations

scientific article

Pediatric antiphospholipid syndrome: clinical and immunologic features of 121 patients in an international registry.

scientific article published on 27 October 2008

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

Periodic fever, apthous stomatitis, pharyngitis and adenitis syndrome.

scientific article published on September 2010

Perspective validation of the eurofever classification criteria for monogenic periodic fevers

scientific article published on 17 September 2014

Pharmacologic P2X purinergic receptor antagonism in the treatment of collagen-induced arthritis

scientific article published on 01 November 2011

Phenotypic and functional characterisation of CCR7+ and CCR7- CD4+ memory T cells homing to the joints in juvenile idiopathic arthritis

scientific article

Phenotypic and functional characterization of switch memory B cells from patients with oligoarticular juvenile idiopathic arthritis

scientific article published on 5 October 2009

Predictors of Effectiveness of Anakinra in Systemic Juvenile Idiopathic Arthritis

scientific article published on 15 January 2019

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part three: Genoa, Italy. 28 September – 01 October 2016.

scientific article published on 30 May 2017

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

scientific article published on 30 May 2017

Publisher Correction: The Extended Polydimensional Immunome Characterization (EPIC) web-based reference and discovery tool for cytometry data

scientific article published on 28 May 2020

Recurrent pericarditis in children and adolescents: a multicentre cohort study

scientific article published on September 2016

Recurrent pericarditis: still idiopathic? The pros and cons of a well-honoured term

scientific article published on 18 July 2018

Reply to: About the AIRTRIP randomised clinical trial

scientific article

Response to: 'Do we need the PFAPA syndrome in adults with non-monogenic periodic fevers?' by Fayand et al

scientific article published on 07 February 2020

Response to: 'Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype' by Gupta et al

scientific article published on 06 September 2019

Response to: 'Standard dose of ustekinumab for childhood-onset deficiency of interleukin-36 receptor antagonist' by Cherqaoui et al.

scientific article published on 13 January 2018

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

Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): A new syndrome? ⬇️

scientific article published on November 28, 1997

Review: Beyond the NLRP3 Inflammasome: Autoinflammatory Diseases Reach Adolescence ⬇️

scientific article published on May 1, 2013

Role of IL-1 beta in the development of human T(H)17 cells: lesson from NLPR3 mutated patients.

scientific article

Safety and efficacy of early high-dose IV anakinra in severe COVID-19 lung disease

scientific article published on 10 May 2020

Serum interleukin 12 concentration in juvenile chronic arthritis ⬇️

scientific article published on July 1, 1998

Some clarifications on the new classification criteria for recurrent fevers

scientific article published on 06 May 2020

Successful treatment of idiopathic recurrent pericarditis in children with interleukin-1beta receptor antagonist (anakinra): an unrecognized autoinflammatory disease?

scientific article published on 01 January 2009

Surface phenotype and antigenic specificity of human interleukin 17-producing T helper memory cells

scientific article (publication date: June 2007)

Synovial fluid T cell clones from oligoarticular juvenile arthritis patients display a prevalent Th1/Th0-type pattern of cytokine secretion irrespective of immunophenotype ⬇️

scientific article published on 01 July 1997

Systemic juvenile idiopathic arthritis is associated with HLA-DRB1 in Europeans and Americans of European descent

scientific article

T-cell defects in patients with germline mutations account for combined immunodeficiency

scientific article published on 25 September 2018

TCR repertoire sequencing identifies synovial Treg cell clonotypes in the bloodstream during active inflammation in human arthritis

scientific article published on 16 June 2016

The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever

scientific article

The Central Role of Anti-IL-1 Blockade in the Treatment of Monogenic and Multi-Factorial Autoinflammatory Diseases

scientific article published on 31 October 2013

The Eurofever Project: towards better care for autoinflammatory diseases ⬇️

scientific article published on March 1, 2011

The Extended Polydimensional Immunome Characterization (EPIC) web-based reference and discovery tool for cytometry data

scientific article published on 21 May 2020

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

scientific article

The autoinflammatory diseases

scientific article published on 19 June 2012

The challenge of periodic fevers in children ⬇️

scientific article published on March 1, 2012

The effect of infliximab plus methotrexate on the modulation of inflammatory disease markers in juvenile idiopathic arthritis: analyses from a randomized, placebo-controlled trial

scientific article published on 7 September 2010

The hypoxic synovial environment regulates expression of vascular endothelial growth factor and osteopontin in juvenile idiopathic arthritis

scientific article

The immune inhibitory receptor LAIR-1 is highly expressed by plasmacytoid dendritic cells and acts complementary with NKp44 to control IFNα production

scientific article

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 pattern of response to anti-interleukin-1 treatment distinguishes two subsets of patients with systemic-onset juvenile idiopathic arthritis

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

Towards a new set of classification criteria for PFAPA syndrome

scientific article published on 21 September 2018

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

scientific article

Treatment of autoinflammatory syndromes

scientific article published on December 2010

Type I interferon pathway activation in COPA syndrome

scientific article

Type I interferon-mediated autoinflammation due to DNase II deficiency

scientific article published on 19 December 2017

Updated overview of molecular pathways involved in the most common monogenic autoinflammatory diseases

Use of Interleukin-1 Blockers in Pericardial and Cardiovascular Diseases

scientific article published on 14 June 2018

Validation of Relapse Risk Biomarkers for Routine Use in Patients With Juvenile Idiopathic Arthritis

scientific article published on 01 June 2014

Validation of the auto-inflammatory diseases activity index (AIDAI) for hereditary recurrent fever syndromes

scientific article

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