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Type I interferon pathway activation in COPA syndrome

Clinical immunology (Orlando, Fla.), 2018-02, Vol.187, p.33-36

2018

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

Journal of clinical immunology, 2019-07, Vol.39 (5), p.476-485

2019

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Whole-body MRI in the assessment of disease activity in juvenile dermatomyositis

Annals of the rheumatic diseases, 2014-06, Vol.73 (6), p.1083-1090

2014

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Anti-GAD epileptic encephalopathy in a toddler with Parry-Romberg syndrome

Neurological sciences, 2020-03, Vol.41 (3), p.705-708

2020

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

The Journal of pediatrics, 2014-06, Vol.164 (6), p.1425-1431.e1

2014

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

Rheumatology (Oxford, England), 2016-07, Vol.55 (7), p.1325-1335

2016

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

The Lancet (British edition), 2017-03, Vol.389 (10072), p.909-916

2017

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

Frontiers in immunology, 2018-01, Vol.8, p.2015-2015

2018

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

Italian journal of pediatrics, 2019-11, Vol.45 (1), p.148-3, Article 148

2019

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Primary red ear syndrome associated with cochleo-vestibular symptomatology: A paediatric case report

Cephalalgia, 2013-11, Vol.33 (15), p.1277-1280

2013

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A Long-Term Psychological Observation in an Adolescent Affected with Gardner Diamond Syndrome

Indian journal of psychological medicine, 2016-01, Vol.38 (1), p.74-77

2016

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Type I interferonopathies in pediatric rheumatology

Pediatric rheumatology online journal, 2016-06, Vol.14 (1), p.35-35, Article 35

2016

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The expanding pathways of autoinflammation: a lesson from the first 100 genes related to autoinflammatory manifestations

Advances in protein chemistry and structural biology, 2020, Vol.120, p.1

2020

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

Rheumatology (Oxford, England), 2020-02, Vol.59 (2), p.344-360

2020

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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Nature genetics, 2014-05, Vol.46 (5), p.503-509

2014

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

Journal of rheumatology, 2014-11, Vol.41 (11), p.2333

2014

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Type I interferon-mediated autoinflammation due to DNase II deficiency

Nature communications, 2017-12, Vol.8 (1), p.2176-15, Article 2176

2017

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T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

Blood, 2018-11, Vol.132 (22), p.2362-2374

2018

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Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Brain (London, England : 1878), 2021-06, Vol.144 (5), p.1451-1466

2021

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Early onset PFAPA-like syndrome in a child with microduplication of the 7q11.23

Clinical and experimental rheumatology, 2019-11, Vol.37 Suppl 121 (6), p.163

2019

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Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

Nature communications, 2015-07, Vol.6 (1), p.7870-7870, Article 7870

2015

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

Rheumatology (Oxford, England), 2020-02, Vol.59 (2), p.458-458

2020

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Coxarthritis as the Presenting Symptom of Gaucher Disease Type 1

Arthritis, 2011-01, Vol.2011, p.361279-4

2011

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Type I interferon pathway activation in COPA syndrome

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

Whole-body MRI in the assessment of disease activity in juvenile dermatomyositis

Anti-GAD epileptic encephalopathy in a toddler with Parry-Romberg syndrome

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

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

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

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

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

Primary red ear syndrome associated with cochleo-vestibular symptomatology: A paediatric case report

A Long-Term Psychological Observation in an Adolescent Affected with Gardner Diamond Syndrome

Correction: Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Type I interferonopathies in pediatric rheumatology

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

The expanding pathways of autoinflammation: a lesson from the first 100 genes related to autoinflammatory manifestations

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

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

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

Type I interferon-mediated autoinflammation due to DNase II deficiency

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Early onset PFAPA-like syndrome in a child with microduplication of the 7q11.23

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

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

Coxarthritis as the Presenting Symptom of Gaucher Disease Type 1

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