<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Caorsi, Roberta</style></author><author><style face="normal" font="default" size="100%">Penco, Federica</style></author><author><style face="normal" font="default" size="100%">Grossi, Alice</style></author><author><style face="normal" font="default" size="100%">Insalaco, Antonella</style></author><author><style face="normal" font="default" size="100%">Omenetti, Alessia</style></author><author><style face="normal" font="default" size="100%">Alessio, Maria</style></author><author><style face="normal" font="default" size="100%">Conti, Giovanni</style></author><author><style face="normal" font="default" size="100%">Marchetti, Federico</style></author><author><style face="normal" font="default" size="100%">Picco, Paolo</style></author><author><style face="normal" font="default" size="100%">Tommasini, Alberto</style></author><author><style face="normal" font="default" size="100%">Martino, Silvana</style></author><author><style face="normal" font="default" size="100%">Malattia, Clara</style></author><author><style face="normal" font="default" size="100%">Gallizi, Romina</style></author><author><style face="normal" font="default" size="100%">Podda, Rosa Anna</style></author><author><style face="normal" font="default" size="100%">Salis, Annalisa</style></author><author><style face="normal" font="default" size="100%">Falcini, Fernanda</style></author><author><style face="normal" font="default" size="100%">Schena, Francesca</style></author><author><style face="normal" font="default" size="100%">Garbarino, Francesca</style></author><author><style face="normal" font="default" size="100%">Morreale, Alessia</style></author><author><style face="normal" font="default" size="100%">Pardeo, Manuela</style></author><author><style face="normal" font="default" size="100%">Ventrici, Claudia</style></author><author><style face="normal" font="default" size="100%">Passarelli, Chiara</style></author><author><style face="normal" font="default" size="100%">Zhou, Qing</style></author><author><style face="normal" font="default" size="100%">Severino, Mariasavina</style></author><author><style face="normal" font="default" size="100%">Gandolfo, Carlo</style></author><author><style face="normal" font="default" size="100%">Damonte, Gianluca</style></author><author><style face="normal" font="default" size="100%">Martini, Alberto</style></author><author><style face="normal" font="default" size="100%">Ravelli, Angelo</style></author><author><style face="normal" font="default" size="100%">Aksentijevich, Ivona</style></author><author><style face="normal" font="default" size="100%">Ceccherini, Isabella</style></author><author><style face="normal" font="default" size="100%">Gattorno, Marco</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.</style></title><secondary-title><style face="normal" font="default" size="100%">Ann Rheum Dis</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Ann. Rheum. Dis.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adenosine Deaminase</style></keyword><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Age of Onset</style></keyword><keyword><style  face="normal" font="default" size="100%">Case-Control Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Mutational Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Heterozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Homozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Immunoglobulins</style></keyword><keyword><style  face="normal" font="default" size="100%">Immunosuppressive Agents</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant</style></keyword><keyword><style  face="normal" font="default" size="100%">Intercellular Signaling Peptides and Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Italy</style></keyword><keyword><style  face="normal" font="default" size="100%">Livedo Reticularis</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Pedigree</style></keyword><keyword><style  face="normal" font="default" size="100%">Polyarteritis Nodosa</style></keyword><keyword><style  face="normal" font="default" size="100%">Stroke</style></keyword><keyword><style  face="normal" font="default" size="100%">Thalidomide</style></keyword><keyword><style  face="normal" font="default" size="100%">Tumor Necrosis Factor-alpha</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Oct</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">76</style></volume><pages><style face="normal" font="default" size="100%">1648-1656</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;OBJECTIVES: &lt;/b&gt;To analyse the prevalence of  mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). Forty-eight patients from 43 families were included in the study.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;Direct sequencing of  was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity was analysed in monocyte isolated from patients and healthy controls incubated with adenosine and with or without an ADA1 inhibitor.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Biallelic homozygous or compound heterozygous  mutations were detected in 15/48 patients. A heterozygous disease-associated mutation (p.G47V) was observed in two affected brothers. The mean age of onset of the genetically positive patients was 24 months (6 months to 7 years). Ten patients displayed one or more cerebral strokes during their disease course. Low immunoglobulin levels were detected in six patients. Thalidomide and anti-TNF (tumour necrosis factor) blockers were the most effective drugs. Patients without  mutations had a later age at disease onset, a lower prevalence of neurological and skin manifestations; one of these patients displayed all the clinical features of adenosine deaminase 2deficiency (DADA2) and a defective enzymatic activity suggesting the presence of a missed mutation or a synthesis defect.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;DADA2 accounts for paediatric patients diagnosed with PAN-like disease and strokes and might explain an unrecognised condition in patients followed by adult rheumatologist. Timely diagnosis and treatment with anti-TNF agents are crucial for the prevention of severe complications of the disease. Functional assay to measure ADA2 activity should complement genetic testing in patients with non-confirming genotypes.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">10</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/28522451?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Ravelli, Angelo</style></author><author><style face="normal" font="default" size="100%">Davì, Sergio</style></author><author><style face="normal" font="default" size="100%">Bracciolini, Giulia</style></author><author><style face="normal" font="default" size="100%">Pistorio, Angela</style></author><author><style face="normal" font="default" size="100%">Consolaro, Alessandro</style></author><author><style face="normal" font="default" size="100%">van Dijkhuizen, Evert Hendrik Pieter</style></author><author><style face="normal" font="default" size="100%">Lattanzi, Bianca</style></author><author><style face="normal" font="default" size="100%">Filocamo, Giovanni</style></author><author><style face="normal" font="default" size="100%">Verazza, Sara</style></author><author><style face="normal" font="default" size="100%">Gerloni, Valeria</style></author><author><style face="normal" font="default" size="100%">Gattinara, Maurizio</style></author><author><style face="normal" font="default" size="100%">Pontikaki, Irene</style></author><author><style face="normal" font="default" size="100%">Insalaco, Antonella</style></author><author><style face="normal" font="default" size="100%">De Benedetti, Fabrizio</style></author><author><style face="normal" font="default" size="100%">Civino, Adele</style></author><author><style face="normal" font="default" size="100%">Presta, Giuseppe</style></author><author><style face="normal" font="default" size="100%">Breda, Luciana</style></author><author><style face="normal" font="default" size="100%">Marzetti, Valentina</style></author><author><style face="normal" font="default" size="100%">Pastore, Serena</style></author><author><style face="normal" font="default" size="100%">Magni-Manzoni, Silvia</style></author><author><style face="normal" font="default" size="100%">Maggio, Maria Cristina</style></author><author><style face="normal" font="default" size="100%">Garofalo, Franco</style></author><author><style face="normal" font="default" size="100%">Rigante, Donato</style></author><author><style face="normal" font="default" size="100%">Gattorno, Marco</style></author><author><style face="normal" font="default" size="100%">Malattia, Clara</style></author><author><style face="normal" font="default" size="100%">Picco, Paolo</style></author><author><style face="normal" font="default" size="100%">Viola, Stefania</style></author><author><style face="normal" font="default" size="100%">Lanni, Stefano</style></author><author><style face="normal" font="default" size="100%">Ruperto, Nicolino</style></author><author><style face="normal" font="default" size="100%">Martini, Alberto</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Italian Pediatric Rheumatology Study Group</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Intra-articular corticosteroids versus intra-articular corticosteroids plus methotrexate in oligoarticular juvenile idiopathic arthritis: a multicentre, prospective, randomised, open-label trial.</style></title><secondary-title><style face="normal" font="default" size="100%">Lancet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Lancet</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adrenal Cortex Hormones</style></keyword><keyword><style  face="normal" font="default" size="100%">Arthritis, Juvenile</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Injections, Intra-Articular</style></keyword><keyword><style  face="normal" font="default" size="100%">Italy</style></keyword><keyword><style  face="normal" font="default" size="100%">Methotrexate</style></keyword><keyword><style  face="normal" font="default" size="100%">Prospective Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Treatment Outcome</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 03 04</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">389</style></volume><pages><style face="normal" font="default" size="100%">909-916</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;Little evidence-based information is available to guide the treatment of oligoarticular juvenile idiopathic arthritis. We aimed to investigate whether oral methotrexate increases the efficacy of intra-articular corticosteroid therapy.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;We did this prospective, open-label, randomised trial at ten hospitals in Italy. Using a concealed computer-generated list, children younger than 18 years with oligoarticular-onset disease were randomly assigned (1:1) to intra-articular corticosteroids alone or in combination with oral methotrexate (15 mg/m; maximum 20 mg). Corticosteroids used were triamcinolone hexacetonide (shoulder, elbow, wrist, knee, and tibiotalar joints) or methylprednisolone acetate (ie, subtalar and tarsal joints). We did not mask patients or investigators to treatment assignments. Our primary outcome was the proportion of patients in the intention-to-treat population who had remission of arthritis in all injected joints at 12 months. This trial is registered with European Union Clinical Trials Register, EudraCT number 2008-006741-70.&lt;/p&gt;&lt;p&gt;&lt;b&gt;FINDINGS: &lt;/b&gt;Between July 7, 2009, and March 31, 2013, we screened 226 participants and randomly assigned 102 to intra-articular corticosteroids alone and 105 to intra-articular corticosteroids plus methotrexate. 33 (32%) patients assigned to intra-articular corticosteroids alone and 39 (37%) assigned to intra-articular corticosteroids and methotrexate therapy had remission of arthritis in all injected joints (p=0·48). Adverse events were recorded for 20 (17%) patients who received methotrexate, which led to permanent treatment discontinuation in two patients (one due to increased liver transaminases and one due to gastrointestinal discomfort). No patient had a serious adverse event.&lt;/p&gt;&lt;p&gt;&lt;b&gt;INTERPRETATION: &lt;/b&gt;Concomitant administration of methotrexate did not augment the effectiveness of intra-articular corticosteroid therapy. Future studies are needed to define the optimal therapeutic strategies for oligoarticular juvenile idiopathic arthritis.&lt;/p&gt;&lt;p&gt;&lt;b&gt;FUNDING: &lt;/b&gt;Italian Agency of Drug Evaluation.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">10072</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/28162781?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Naselli, Aldo</style></author><author><style face="normal" font="default" size="100%">Penco, Federica</style></author><author><style face="normal" font="default" size="100%">Cantarini, Luca</style></author><author><style face="normal" font="default" size="100%">Insalaco, Antonella</style></author><author><style face="normal" font="default" size="100%">Alessio, Mariolina</style></author><author><style face="normal" font="default" size="100%">Tommasini, Alberto</style></author><author><style face="normal" font="default" size="100%">Maggio, Cristina</style></author><author><style face="normal" font="default" size="100%">Obici, Laura</style></author><author><style face="normal" font="default" size="100%">Gallizi, Romina</style></author><author><style face="normal" font="default" size="100%">Cimmino, Marco</style></author><author><style face="normal" font="default" size="100%">Signa, Sara</style></author><author><style face="normal" font="default" size="100%">Lucherini, Orso Maria</style></author><author><style face="normal" font="default" size="100%">Carta, Sonia</style></author><author><style face="normal" font="default" size="100%">Caroli, Francesco</style></author><author><style face="normal" font="default" size="100%">Martini, Alberto</style></author><author><style face="normal" font="default" size="100%">Rubartelli, Anna</style></author><author><style face="normal" font="default" size="100%">Ceccherini, Isabella</style></author><author><style face="normal" font="default" size="100%">Gattorno, Marco</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.</style></title><secondary-title><style face="normal" font="default" size="100%">J Rheumatol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J. Rheumatol.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2016</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2016 Jun</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">43</style></volume><pages><style face="normal" font="default" size="100%">1093-100</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;OBJECTIVE: &lt;/b&gt;The aim of our study was to analyze the clinical and functional effect of the p.Q703K (p. Q705K, c. 2107C&gt;A) variant of the NLRP3 gene in a population of patients screened for suspected cryopyrin-associated periodic syndrome (CAPS).&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;Since 2002, 580 patients underwent molecular analysis for NLRP3. Data on clinical presentation, response to treatment, and longterm followup were collected using a uniform questionnaire. The pattern of cytokine secretion after lipopolysaccharide stimulation from isolated monocytes was analyzed in 3 patients carrying the p.Q703K variant and 1 patient with a chronic infantile neurologic, cutaneous, articular syndrome phenotype carrying both the p.M406I and p.Q703K, and compared with 7 patients with CAPS with sure pathogenic variants and 6 healthy controls.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;The p.Q703K variant was found in 57 screened patients with an overall allelic frequency of 5%. The frequency in normal controls was 5.5%. Clinical data at the moment of molecular analysis and at followup were available in 36 patients. Two patients displayed additional mutations of NLRP3. The mean followup was 2.5 years. Thirteen patients (39%) had a final diagnosis different from the original suspicion of CAPS. The remaining 21 patients displayed a mild phenotype mainly characterized by recurrent episodes of urticarial rash and arthralgia. Only 8 patients were treated with anti-interleukin (IL)-1 treatment, with a complete response in 5 patients. The pattern of secretion of IL-1β and other cytokines (IL-6 and IL-1 receptor antagonist) in patients did not display the aberrancies observed in patients with CAPS and was similar to that observed in healthy controls.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;The present study confirms the weak clinical and functional effect of the p.Q703K variant.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/27036377?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">De Pieri, Carlo</style></author><author><style face="normal" font="default" size="100%">Taddio, Andrea</style></author><author><style face="normal" font="default" size="100%">Insalaco, Antonella</style></author><author><style face="normal" font="default" size="100%">Barbi, Egidio</style></author><author><style face="normal" font="default" size="100%">Lepore, Loredana</style></author><author><style face="normal" font="default" size="100%">Ventura, Alessandro</style></author><author><style face="normal" font="default" size="100%">Tommasini, Alberto</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Different presentations of mevalonate kinase deficiency: a case series.</style></title><secondary-title><style face="normal" font="default" size="100%">Clin Exp Rheumatol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Clin. Exp. Rheumatol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Age Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Bacterial Infections</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Diagnosis, Differential</style></keyword><keyword><style  face="normal" font="default" size="100%">Diagnostic Errors</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant</style></keyword><keyword><style  face="normal" font="default" size="100%">Inflammatory Bowel Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mevalonate Kinase Deficiency</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Predictive Value of Tests</style></keyword><keyword><style  face="normal" font="default" size="100%">Recurrence</style></keyword><keyword><style  face="normal" font="default" size="100%">Risk Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Sepsis</style></keyword><keyword><style  face="normal" font="default" size="100%">Vasculitis</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 May-Jun</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">33</style></volume><pages><style face="normal" font="default" size="100%">437-42</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;OBJECTIVES: &lt;/b&gt;We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">3</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25897835?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Rusmini, Marta</style></author><author><style face="normal" font="default" size="100%">Federici, Silvia</style></author><author><style face="normal" font="default" size="100%">Caroli, Francesco</style></author><author><style face="normal" font="default" size="100%">Grossi, Alice</style></author><author><style face="normal" font="default" size="100%">Baldi, Maurizia</style></author><author><style face="normal" font="default" size="100%">Obici, Laura</style></author><author><style face="normal" font="default" size="100%">Insalaco, Antonella</style></author><author><style face="normal" font="default" size="100%">Tommasini, Alberto</style></author><author><style face="normal" font="default" size="100%">Caorsi, Roberta</style></author><author><style face="normal" font="default" size="100%">Gallo, Eleonora</style></author><author><style face="normal" font="default" size="100%">Olivieri, Alma Nunzia</style></author><author><style face="normal" font="default" size="100%">Marzano, AngeloValerio</style></author><author><style face="normal" font="default" size="100%">Coviello, Domenico</style></author><author><style face="normal" font="default" size="100%">Ravazzolo, Roberto</style></author><author><style face="normal" font="default" size="100%">Martini, Alberto</style></author><author><style face="normal" font="default" size="100%">Gattorno, Marco</style></author><author><style face="normal" font="default" size="100%">Ceccherini, Isabella</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.</style></title><secondary-title><style face="normal" font="default" size="100%">Ann Rheum Dis</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Ann. Rheum. Dis.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Sep 17</style></date></pub-dates></dates><language><style face="normal" font="default" size="100%">ENG</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;OBJECTIVES: &lt;/b&gt;Systemic auto-inflammatory disorders (SAIDs) are a heterogeneous group of monogenic diseases sharing a primary dysfunction of the innate immune system. More than 50% of patients with SAID does not show any mutation at gene(s) tested because of lack of precise clinical classification criteria and/or incomplete gene screening. To improve the molecular diagnosis and genotype interpretation of SAIDs, we undertook the development of a next-generation sequencing (NGS)-based protocol designed to simultaneous screening of 10 genes.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;Fifty patients with SAID, already genotyped for the respective causative gene(s), were massively sequenced for the coding portions of MEFV, MVK, TNFRSF1A, NLRP3, NLRP12, NOD2, PSTPIP1, IL1RN, LPIN2 and PSMB8. Three different bioinformatic pipelines (Ion Reporter, CLC Bio Genomics Workbench, GATK-based in-house workflow) were compared.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Once resulting variants were compared with the expected mutation list, no workflow turned out to be able to detect all the 79 variants known in the 50 DNAs. Additional variants were also detected, validated by Sanger sequencing and compared to assess true and false positive detection rates of the three workflows. Finally, the overall clinical picture of 34 patients was re-evaluated in the light of the new mutations found.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;The present gene panel has resulted suitable for molecular diagnosis of SAIDs. Moreover, genotype-phenotype correlation has confirmed that the interpretation of NGS data in patients with an undefined inflammatory phenotype is remarkably difficult, thus supporting the need of evidence-based and validated clinical criteria to be used concurrently with the genetic analysis for the final diagnosis and classification of patients with SAIDs.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/26386126?dopt=Abstract</style></custom1></record></records></xml>