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

…, C Mignot, J O'Sullivan, S Orcesi, PP Picco… - Nature …, 2014 - nature.com
The type I interferon system is integral to human antiviral immunity. However, inappropriate
stimulation or defective negative regulation of this system can lead to inflammatory disease. …

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

…, M Alessio, G Conti, F Marchetti, P Picco… - Annals of the …, 2017 - ard.bmj.com
Objectives To analyse the prevalence of CECR1 mutations in patients diagnosed with early
onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation …

MEFV mutations in Behçet's disease

…, N Molinari, A Navarro, AL Quellec, P Picco… - Human …, 2000 - Wiley Online Library
Familial Mediterranean fever (FMF) and Behçet's disease (BD), both inflammatory diseases,
are highly prevalent in the Middle Eastern and Mediterranean populations. FMF is a …

[HTML][HTML] Type I interferon-mediated autoinflammation due to DNase II deficiency

…, T Pascreau, S Pastore, C Picard, P Picco… - Nature …, 2017 - nature.com
Microbial nucleic acid recognition serves as the major stimulus to an antiviral response,
implying a requirement to limit the misrepresentation of self nucleic acids as non-self and the …

Primary Sjögren syndrome in the paediatric age: a multicentre survey

…, J Bartunkova, A Sediva, F Falcini, P Picco… - European journal of …, 2003 - Springer
Primary Sjögren syndrome (SS) is very rare in childhood. We collected a series of primary
paediatric SS cases from different centres. A data collection form was prepared and sent to …

Efficacy and safety of alendronate for the treatment of osteoporosis in diffuse connective tissue diseases in children: a prospective multicenter study

…, G Luisetto, D Giuntini, P Picco… - … : Official Journal of …, 2000 - Wiley Online Library
Objective Osteopenia/osteoporosis is being increasingly reported as a complication of many
chronic diseases, even in children. In this preliminary study, we evaluated the effect of an …

[HTML][HTML] Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

…, JC De Greef, A Gennery, P Picco… - Nature …, 2015 - nature.com
The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF)
syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of …

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

P Picco, G Brisca, F Traverso, A Loy… - Arthritis & …, 2009 - Wiley Online Library
Recurrent pericarditis occurs in association with various medical conditions, but in most
cases the condition appears to be idiopathic. Although high‐dose steroid treatment is often …

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

…, G Santamaria, F Traverso, P Picco… - Arthritis & …, 2006 - Wiley Online Library
Objective To explore tumor necrosis factor (TNF)–induced apoptosis in neutrophils from
patients with TNF receptor–associated periodic syndrome (TRAPS) and to correlate the results …

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

…, A Consolaro, A Ravelli, N Ruperto, P Picco… - Annals of the …, 2014 - ard.bmj.com
Objective To compare whole-body MRI (WB-MRI) with clinical examination in the assessment
of disease activity in juvenile dermatomyositis (JDM). Methods WB-MR images were …