Doctor of Medicine and Surgery from UCSC in 2003
residency in internal medicine in 2009
PhD in Basic Biomedical Sciences and Public Health - XXIX cycle - medical genetics address Catholic University of the Sacred Heart - Rome in 2016
RESEARCH INTERESTS
Autoinflammatory diseases, pericarditis, fever of unknown origin, lysosomal storage diseases
78
Scopus Publications
1867
Scholar Citations
23
Scholar h-index
45
Scholar i10-index
Scopus Publications
Expanding the Therapeutic Landscape of Pericarditis: A Systematic Review of the Use of Conventional Immunosuppressants Andrea Silvio Giordani, Caterina Menghi, Antonella Risoli, Anna Baritussio, Federico Scognamiglio, Matteo Castegnaro, Elena Pontara, Maria Grazia Cattini, Elisa Bison, Celeste Ambra Murace, Elena Verrecchia, Marco Giuseppe Del Buono, Francesco Landi, Ludovico Luca Sicignano, Alida Linda Patrizia Caforio Medicina Lithuania, 2026 Background and Objectives: While interleukin-1 inhibitors represent the standard of care for refractory idiopathic recurrent acute pericarditis, current guidelines also endorse conventional immunosuppressive (IS) agents as potential alternatives. The use of conventional IS agents is particularly relevant in specific clinical scenarios, such as systemic immune-mediated disease (SID)-associated pericarditis. However, existing evidence regarding their efficacy and safety for pericarditis treatment remains fragmented, deriving exclusively from case reports, case series, and small monocentric observational studies. Our aims are: To characterize the clinical and diagnostic profiles of patients with pericarditis treated with conventional IS agents and to evaluate the therapeutic efficacy and safety of such agents. Materials and Methods: A systematic review was conducted in accordance with PRISMA guidelines. Major electronic databases were searched from January 1970 to March 2026 for case reports, case series, and observational studies detailing the use of conventional IS therapies for pericarditis. Clinical and therapeutic data, including specific IS indications and dosing regimens, were systematically extracted. Results: The final analysis included 39 reports comprising 75 patients (60% female; median age 36.0 years). The underlying pericarditis aetiology was predominantly SID-related (53%, n = 40) or idiopathic/presumed viral recurrent disease (40%, n = 30). The most frequently prescribed first-line IS agents were azathioprine (44%) and methotrexate (25%). Across published reports, IS therapy was described as achieving pericarditis clinical resolution in all cases and facilitated corticosteroid withdrawal in 72% of patients. Overall, pericarditis recurrence while on IS therapy occurred in only 10% of the cohort. Adverse events requiring IS withdrawal were rare (n = 2, 3%). Conclusions: Conventional IS agents appear effective and generally well tolerated in the published literature on SID-associated and isolated recurrent pericarditis. These findings reinforce the clinical utility of conventional IS therapies as a viable, steroid-sparing strategy when targeted biologic therapies lack sufficient investigation.
NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory Disorders Beatrice Rosa, Elisabetta Tabolacci, Roberta Pietrobono, Eugenio Sangiorgi, Fiorella Gurrieri, Pietro Chiurazzi, Ludovico Luca Sicignano, Elena Verrecchia, Maurizio Genuardi, Donato Rigante, Raffaele Manna Genes, 2026 Background: Dysregulation of the innate immune system is a key feature of autoinflammatory disorders, characterized by recurrent or chronic inflammation in the absence of high-titer autoantibodies and antigen-specific T cells. Among regulators of innate immunity, NLRP12 has emerged as an important modulator of inflammatory signaling pathways. As a member of the nucleotide-binding oligomerization domain-like receptor (NLR) family, NLRP12 negatively regulates nuclear factor (NF)-κB activity and contributes to immune homeostasis. However, the clinical significance of NLRP12 variants and their association with disease phenotypes remain incompletely understood. This study aims to summarize current knowledge on the molecular role of NLRP12 and its involvement in autoinflammatory manifestations. Methods: A narrative review of the literature on NLRP12’s molecular functions and role in autoinflammatory diseases was performed. In addition, a cohort of 20 patients with recurrent fevers carrying NLRP12 variants was analyzed from a clinical perspective, evaluating genetic findings and clinical features. Results: Available evidence indicates that NLRP12 regulates inflammatory signaling, particularly through modulation of NF-κB activity. Variants in the NLRP12 gene have been associated with a spectrum of autoinflammatory phenotypes, ranging from periodic fever syndromes to broader systemic inflammatory manifestations. Clinical evaluation of the cohort confirmed the heterogeneity of disease presentations among individuals carrying NLRP12 variants. Conclusions: NLRP12 plays an important role in the regulation of innate immune responses and may contribute to autoinflammatory phenotypes. Integrating molecular data with clinical observations may improve the understanding of NLRP12 variants and support more accurate diagnostic and therapeutic strategies.
Immune Biomarker Signature in the Diagnostic Workup of Fever Without Source: A Pilot Study Angela Maria Di Francesco, Giuliana Pasciuto, Laura Gerardino, Ludovico Luca Sicignano, Elena Verrecchia, Andrea Urbani, Donato Rigante, Raffaele Manna Mediterranean Journal of Hematology and Infectious Diseases, 2026 Fevers without an identified source (FWS) are frequent in all-aged patients, even in children, with subjects being often labeled as affected with ‘fever of unknown origin’ if fever lasts for more than one week.1 This definition was formally created by Petersdorf and Beeson in the early ‘60s through the evaluation of a case series of subjects displaying unexplained rise of temperature over 38.3°C on several occasions for more than 3 weeks.2 It is well-known that FWS might include infectious, non-infectious inflammatory, tumoral diseases, but also further complex types of disorders in which fever is a predominant feature.3 Furthermore, among undiagnosed cases of FWS, the mortality rate may be relevant, varying from 6.9 to 18.6% in some reported series.4 In particular, investigating children with FWS may be may be frustrating because of multiple protean causes of fever, and autoinflammatory disorders.5 Infectious diseases are still a substantial etiology of FWS, while non-infectious conditions may elude many common diagnostic approaches, requiring imaging studies and more specific immunological or genetic tests.6
Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, Elena Verrecchia, Rita Fischetto, Grazia Crescimanno, Roberta Taurisano, Annalisa Sechi, Serena Gasperini, Vittoria Cianci, Lorenzo Maggi, Filippo Brighina, Rita Barone, Annalia Cianflone, Marta Balzarini, Rossella Parini, Maurizio Scarpa Orphanet Journal of Rare Diseases, 2025 Pompe disease and Mucopolysaccharidoses Type I (MPS-I) are lysosomal disorders caused by a deficiency of α-glucosidase and alpha-L-iduronidase, respectively. The mainstay of treatment is enzyme replacement therapy (ERT), a life-long treatment that requires regular I.V. infusions. Hospital-based therapy can, however, negatively impact quality of life over time. The purpose of the HomERT study (Home infusions of ERT) was to evaluate the safety, treatment compliance, and treatment satisfaction related to home therapy of Pompe disease patients with Myozyme® (alglucosidase alfa) and MPS-I patients with Aldurazyme® (laronidase). The final results are presented in this paper. The HomERT study was a multicenter, non-interventional, minimum 12-month prospective observational, double-cohort study that analyzed 56 patients from 14 sites in Italy from October 2021 to February 2024: cohort A (Pompe disease − 47 patients) and cohort B (MPS-I − 9 patients: 6 Hurler/Scheie, 3 Scheie). During the observation period, the mean (SD) number of missed infusions was 5.8 (3.92) in cohort A and 3.0 (3.52) in cohort B, corresponding to a mean (SD) of missed infusions of 19.8 (32.7)% and 4.1 (4.2)%, respectively, versus the number of planned infusions. Only 2 patients in cohort A returned to the hospital setting due to “adverse event” and “other” reasons. A total of 13 Adverse Drug Reactions (ADR) were reported during the home-care setting before and after enrollment. The average number of ADRs per patient was 0.2 (1.46) in cohort A and 0.2 (0.67) in group B, and the rate of ADRs/year was 0.15 (95% CI: 0.06; 0.34) in cohort A and 0.06 (95% CI: 0.01; 0.38) in cohort B. The majority of patients preferred home-based infusions (cohort A: 93.6%; cohort B: 88.9%), and the main reason was attributed to treatment convenience (cohort A: 93.6%; cohort B: 100%). Despite the underlying conditions, most patients self-evaluated their health as “Fair” in cohort A (36.2%) and “Good” in cohort B (44.5%). The use of ERT with α-glucosidase and alpha-L-iduronidase alfa remains a strong candidate for home therapy, with favorable safety profile, improved treatment ERT compliance, and patient satisfaction. NCT05073783.
Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians’ point of view: the results of an Italian survey Alice Rossi, Chiara Pancaldi, Maria Giulia Regazzi, Giulio Agnelli, Valentina Assirelli, Antonio Barbato, Federico Baronio, Andrea Benso, Silvia Maria Bernabei, Giacomo Biasucci, Mara Botti, Cristina Bonfanti, Andrea Bordugo, Giulia Bruni, Alberto Burlina, Egidio Candela, Maria Teresa Carbone, Rosa Carella, Francesca Carubbi, Annalia Cianflone, Alessandra Cipriani, Silvia Coacci, Giuliana Da Prato, Sabrina De Leo, Valeria Di Natale, Alice Dianin, Carlo Dionisi Vici, Ilaria Fasan, Stefania Ferraro, Massimiliano Filosto, Serena Gasperini, Sara Giorda, Giorgia Gugelmo, Chiara Guzzetti, Concetta Latina, Christian Loro, Evelina Maines, Giacomo Marchi, Elena Massimino, Dorina Mita, Francesca Nardecchia, Davide Noto, Rita Ortolano, Sabrina Paci, Rossella Parini, Sara Parolisi, Giulia Paterno, Lidia Pontillo, Angela Pozzoli, Roberta Pretese, Sara Quattrini, Alice Re Dionigi, Valentina Rovelli, Simona Salera, Ferruccio Santini, Iris Scala, Annalisa Sechi, Claudia Sgattoni, Michele Stecchi, Alessandra Tavian, Antonio Toscano, Albina Tummolo, Maria Letizia Urban, Elena Verrecchia, Nicola Vitturi, Claudia Zuppaldi, Juri Zuvadelli, Lucia Brodosi Orphanet Journal of Rare Diseases, 2025 Background Patients affected by inherited metabolic diseases (IMDs), through effective newborn screening and better clinical management, are living longer and have a lower burden of disease; this rises the challenge of properly taking life-long care of them as they age. This study aims to assess the Italian experience with the transition of patients affected by IMDs from pediatrician to adult care, focusing on the dietetic approach as well. For this purpose, a survey was created on REDCap® and distributed via email to the members of the “Dietetics and Nutrition Working Group” and “Inherited Metabolic Diseases in Adults Working Group” of “Italian IMD and Newborn Screening Society” (SIMMESN); dissemination was possible with the collaboration of MetabERN. Results A total of 49 complete responses were collected-28 from medical doctors (MDs) and 21 from dietitians-from 35 different centers. Considering the MDs, 13 take care of pediatric patients; the remaining 15, with heterogeneous specialization, of adults with IMDs. Considering the dietitians, only 6 deal with IMDs patients as their full-time activity. Out of the 35 centers, 19 do not have a transition program (while 10/19 are already trying to implement it); the main barrier identified to the implementation voted by 42% of participants is represented by the lack of identification of a suitable facility. Considering the 16 centers that already have a transition program, the 2 main difficulties reported by 43% of participants were the lack of a psychologist for adult centers and the lack of specific training in IMDs on the adult service team; this last option was also the most voted by the dietitians (44%). Conclusions The administered survey allows us to capture the state of transition programs in Italy, the lack of homogeneity in those centers that already have one, and the obstacles to developing a new program. What unequivocally emerged is the need for standardization of the transition program and for delineating a path to train MDs specialized in treating adult patients with IMDs, as well as dedicated dietitians.
The clinical assessment of lung involvement in patients with Still’s disease, results from the multicentre international AIDA Network Still’s Disease Registry Piero Ruscitti, Antonio Vitale, Ilenia Di Cola, Valeria Caggiano, Pierpaolo Palumbo, Ernesto Di Cesare, Andrea Hinojosa-Azaola, Jiram Torres-Ruiz, Guillermo Arturo Guaracha-Basañez, Eduardo Martín-Nares, Giuseppe Lopalco, Maria Morrone, Florenzo Iannone, Henrique A Mayrink Giardini, Rafael Alves Cordeiro, Isabele Parente de Brito Antonelli, Onorina Berardicurti, Luca Navarini, Francesco Ciccia, Maria Chiara Visconti, Daniela Iacono, Haner Direskeneli, Sukran Erten, Haihong Yao, Maissa Thabet, Samar Tharwat, Gaafar Ragab, Verónica Gómez-Caverzaschi, Petros P Sfikakis, Lampros Fotis, Francesco La Torre, Armin Maier, Anastasios Karamanakos, Ibrahim A Almaghlouth, Micol Frassi, Abdurrahman Tufan, Marcello Govoni, Jurgen Sota, Gabriele Simonini, Giacomo Emmi, Francesca Li Gobbi, Paola Parronchi, Stefania Costi, Piercarlo Sarzi-Puttini, Daniela Opris-Belinski, Paolo Sfriso, Maria Tarsia, Maria Cristina Maggio, Sara Monti, Özgül Soysal Gündüz, Donato Rigante, Elena Bartoloni, Elena Verrecchia, Annamaria Iagnocco, Ombretta Viapiana, Elena Bargagli, Ezgi D Batu, Gian Domenico Sebastiani, Emanuela Del Giudice, Giovanni Conti, Luciana Breda, Antonio Gidaro, Maria Francesca Gicchino, Carla Gaggiano, Antonio Luca Brucato, Paola Triggianese, Joanna Makowska, Francesco Carubbi, Nicola Farina, Giuliana Guggino, Amato De Paulis, Maria Antonietta Mazzei, Nunzia Di Meglio, Alberto Lo Gullo, Alessandro Conforti, Benson Ogunjimi, Laura Calabrese, Pietro Rubegni, Annarita Giardina, Ewa Wiesik-Szewczyk, Alberto Balistreri, Claudia Fabiani, Bruno Frediani, Lorenzo Dagna, Roberto Giacomelli, Luca Cantarini Rheumatology, 2025 Objectives To assess the lung involvement in patients with Still’s disease, an inflammatory disease assessing both children and adults. To exploit possible associated factors for parenchymal lung involvement in these patients. Methods A multicentre observational study was arranged assessing consecutive patients with Still’s disease characterized by the lung involvement among those included in the AIDA (AutoInflammatory Disease Alliance) Network Still’s Disease Registry. Still’s disease-lung involvement was defined by the presence of pleuritis, parenchymal features, acute respiratory distress syndrome (ARDS) and/or pulmonary arterial hypertension. Results In total, 90 patients with Still’s disease and lung involvement were assessed (mean age 36.3 ± 17.8 years, 35.6% male sex). Among them, 13.3% of patients were paediatrics. These patients with lung involvement mainly showed pleuritis in 72.2% of cases, parenchymal features in 34.4%, ARDS in 9.5% and pulmonary arterial hypertension in 2.3%. After that we focused on patients characterised by parenchymal lung involvement, which is an emergent issue of clinical concern. These patients with parenchymal lung disease were significantly characterized by sore throat, pericarditis and higher values of systemic score than others. Finally, the administration of both IL-1 or IL-6 inhibitors was not associated with the presence of parenchymal lung involvement. Conclusion The clinical characteristics of patients with Still’s disease and lung involvement were described in the AIDA network. We also provided a clinical profile of patients with parenchymal lung involvement considering its prognostic relevance. Although providing a clinical landscape of these patients, further studies are needed to fully clarify this issue.
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care Anja Lee, Yngve Thomas Bliksrud, Michela Onali, Julia Neugebauer, Francois Eyskens, Dorothea Haas, Karin Mossler, Antije Enekwe, Beata Kiec‐Wilk, Lien My Diep, Cinzia Maria Bellettato, Boris Zernikow, Maurizio Scarpa, Shamima Rahman, Trine Tangeraas, and Journal of Inherited Metabolic Disease, 2025 Palliative care should be an integral part of follow‐up for patients with life‐limiting/life‐threatening conditions, irrespective of age and diagnosis. Many patients with inherited metabolic disorders (IMD) have palliative care needs due to multi‐systemic conditions without curative treatment options. To map the organisation and accessibility of palliative care across European IMD expert centres, and to explore the experiences of IMD physicians with palliative care, the European Reference Network for Hereditary Metabolic Disorders (MetabERN) invited physicians from all 103 member institutions to participate in a survey covering various aspects of palliative care. Ninety‐two physicians from 63 institutions in 23 countries participated. A national plan or strategy for palliative care had been established in most countries (87%). Both children (91%) and adults (89%) had access to palliative care services. Most paediatric (86%) and many adult IMD physicians (67%) used advance care planning. A total of 284 referrals to palliative care were reported, mostly IMD patients with lysosomal and mitochondrial disorders, and neurological, respiratory, cognitive and gastrointestinal comorbidities. However, during the past 5 years, the majority of physicians (60%) had referred 20% or fewer of their deceased patients to palliative care. Although palliative care is available in most European IMD expert centres, only a small proportion of deceased IMD patients has been referred. The findings of this study indicate both a misconception and underutilisation of modern palliative care services. Addressing existing barriers is essential, and both IMD physicians and patients may need more information about available palliative care services and up‐to‐date indications for referral.
Predictors of proteinuria, amyloidosis and kidney failure in familial Mediterranean fever: Data from the International AIDA Network Registry Antonio Vitale, Valeria Caggiano, Jessica Sbalchiero, Abdurrahman Tufan, Ezgi Deniz Batu, Gaafar Ragab, Piero Portincasa, Giovanni Conti, Emma Aragona, Jurgen Sota, Francesco Gavioli, Carla Gaggiano, Amato De Paulis, Ali Şahin, Maria Cristina Maggio, Donato Rigante, Alma Nunzia Olivieri, Derya Yildirim, Hamit Kucuk, Riza Can Kardas, Ibrahim Vasi, Seza Ozen, Yelda Bilginer, Seher Sener, Hulya Ercan Emreol, Ayman Abdel-Monem Ahmed Mahmoud, Mahmoud Ghanema, Amina Maher, Moustafa Ali Saad, Nour Jaber, Mohamad Khalil, Agostino Di Ciaula, Ludovica De Palma, Renata Cuzzola, Andrea Affronti, Fabrizio Gambino, Francesca Della Casa, Ilaria Mormile, Arif Babayiğit, Neşe Çabuk Çelik, Maria Francesca Gicchino, Karina Jahnz-Rozyk, Francesco La Torre, Antonella Insalaco, Andreas Recke, Emanuela Del Giudice, Patrizia Barone, Marco Cattalini, Antonio Luca Brucato, Daniela Opris-Belinski, Petros P Sfikakis, Francesca Li Gobbi, Giacomo Emmi, Henrique A Mayrink Giardini, José Hernández-Rodríguez, Paola Parronchi, Piero Ruscitti, Stefania Costi, Samar Tharwat, Anastasios Karamanakos, Paolo Sfriso, Alessandro Conforti, Elena Verrecchia, Giuseppe Lopalco, Benson Ogunjimi, Ewa Wiesik-Szewczyk, Alberto Balistreri, Claudia Fabiani, Bruno Frediani, Luca Cantarini Rheumatology, 2025 Objectives Proteinuria, amyloidosis and kidney failure are the main long-term renal complications of FMF. This study assesses their risk factors, independent of ethnicity or residence. Methods Patients’ data were drawn from the International AIDA Network registry for monogenic autoinflammatory diseases. Results A total of 598 FMF patients were enrolled, with 80 having proteinuria, 61 amyloidosis and 25 kidney failure. At multivariate regression analysis, proteinuria was associated with out-of-flares thrombocytosis (odds ratio [OR]: 4.78, 95% CI: 1.54–14.8, P = 0.007), increased out-of-flares ESR (OR: 2.7, 95% CI: 1.3–5.6, P = 0.008), homozygous M694V mutation (OR: 2.27, 95% CI: 1.1–4.66, P = 0.025) and heterozygous M694V mutation (OR: 0.29, 95% CI: 0.09–0.86, P = 0.026); amyloidosis was associated with the disease duration (OR: 1.034, 95% CI: 1.004–1.065, P = 0.027), during-flares anaemia (OR: 2.9, 95% CI: 1.18–7.19, P = 0.021), out-of-flares leucocytosis (OR: 7.47, 95% CI: 1.6–34.7, P = 0.01), increased out-of-flares ESR (OR: 3.6, 95% CI: 1.48–8.81, P = 0.005) and heterozygous M694V mutation (OR: 0.18, 95% CI: 0.035–0.9, P = 0.04); kidney failure was associated with the age at diagnosis (OR: 1.04, 95% CI: 1.0003–1.19, P = 0.048), the disease duration in years (OR: 1.07, 95% CI: 1.02–1.12, P = 0.005), attack frequency per year (OR: 1.04, 95% CI: 1.007–1.076, P = 0.019), anaemia out-of-flares (OR: 4.7, 95% CI: 1.004–22.1, P = 0.049) and out-of-flares leucocytosis (OR: 25.8, 95% CI: 2.75–242, P = 0.004). The intraclass correlation coefficient related to ethnicity and country of residence was 6.7% and 6.8% for amyloidosis, respectively, and 0% for proteinuria and kidney failure. Conclusion FMF patients with older age at diagnosis, longer disease duration, anaemia, leucocytosis, thrombocytosis, elevated ESR and homozygous M694V mutation are at higher risk of kidney complications.
The Role of Cutibacterium acnes in the Etiopathogenesis of Sarcoidosis: Current Insights and Future Study Directions Angela Maria Di Francesco, Giuliana Pasciuto, Elena Verrecchia, Ludovico Luca Sicignano, Laura Gerardino, Donato Rigante, Raffaele Manna International Journal of Molecular Sciences, 2025 Cutibacterium acnes (C. acnes) is a commensal bacterium of the skin microbiota that can transform itself into a pathogen depending on the peculiar susceptibility of the host: it is the sole microorganism so far to be found in the specific organ lesions of sarcoidosis, and C. acnes-induced activation of T-helper-type-1 cell responses is generally higher in patients with sarcoidosis than in healthy subjects. This bacterium acts as an opportunistic agent in several inflammatory conditions other than sarcoidosis, such as prostate cancer and prosthetic joint infections. Both innate and adaptive immunity systems are involved in the pathogenesis of C. acnes-mediated sarcoid lesions, and a seminal role is played by host toll-like receptor (TLR)-2, TLR-4, TLR-6, NOD-like receptors, and mononuclear cell cytoplasmic receptors. This review summarizes current knowledge on the potential cause–effect relationship existing between C. acnes and sarcoidosis, addressing issues of future research directions and novel therapeutic strategies in the management of a complex disease such as sarcoidosis.
Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study Daniele Di Natale, Salvatore Rossi, Gianmarco Dalla Zanna, Antonio Funcis, Tommaso Filippo Nicoletti, Ludovico Luca Sicignano, Elena Verrecchia, Angela Romano, Maria Gabriella Vita, Naike Caraglia, Francesca Graziani, Federica Re, Gisella Guerrera, Luca Battistini, Gabriella Silvestri Brain Sciences, 2025 Background/Objectives: Fabry disease (FD) is an inborn error of the glycosphingolipid metabolism with variable kidney, heart, and central nervous system (CNS) involvement. CNS-related FD manifestations include early ischemic stroke and white matter lesions (WMLs) related to cerebral small-vessel disease (CSVD), possibly resulting in cognitive impairment. We studied 40 adult FD patients (17 male) to assess: (i) prevalence of cerebrovascular and cognitive manifestations in FD and their correlation with heart and renal involvement; and (ii) the potential value of serum neurofilament light chain (NfL) levels as an indicator of WMLs in FD. Methods: Patients underwent detailed diagnostic assessment related to FD, also including Mainz Severity Score Index (MSSI), neuropsychological tests, brain MRI to assess WMLs by the modified Fazekas score (mFS), and NfL determination by single-molecule array (SiMoA) (n = 22 FD patients vs. 15 healthy controls). Results: Overall, 4 FD patients had a history of ischemic stroke and 13/32 patients (40.6%) had an mFS ≥ 1. Almost two-thirds of FD patients (27/39, 69.2%) showed impairment on at least one cognitive test. On univariate analysis, only a reduction in estimated glomerular filtration rate was associated with an increased likelihood of having WMLs on brain MRI. Serum NfL levels were higher in FD patients vs. controls, with a trend toward significance (p = 0.08). Conclusions: Mild-to-moderate CSVD is a characteristic brain “signature” in FD patients. Both cardiac and renal involvement correlate with WML load, but only renal involvement appears to be predictive of CNS damage. Brain microvascular damage is associated with mild cognitive impairment in FD, and serum NfL might represent a potential biomarker of CSVD in FD.
Recurrent pericarditis in older adults: Clinical and laboratory features and outcome Emanuele Bizzi, Francesco Cavaleri, Ruggiero Mascolo, Edoardo Conte, Stefano Maggiolini, Caterina Chiara Decarlini, Silvia Maestroni, Valentino Collini, Ludovico Luca Sicignano, Elena Verrecchia, Raffaele Manna, Massimo Pancrazi, Lucia Trotta, Giuseppe Lopalco, Danilo Malandrino, Giada Pallini, Sara Catenazzi, Luisa Carrozzo, Giacomo Emmi, George Lazaros, Antonio Brucato, Massimo Imazio Journal of the American Geriatrics Society, 2024
Risk for cancer development in familial Mediterranean fever and associated predisposing factors: an ambidirectional cohort study from the international AIDA Network registries Antonio Vitale, Valeria Caggiano, Abdurrahman Tufan, Gaafar Ragab, Ezgi Deniz Batu, Piero Portincasa, Emma Aragona, Jurgen Sota, Giovanni Conti, Amato De Paulis, Donato Rigante, Alma Nunzia Olivieri, Ali Şahin, Francesco La Torre, Giuseppe Lopalco, Marco Cattalini, Maria Cristina Maggio, Antonella Insalaco, Petros P. Sfikakis, Elena Verrecchia, Derya Yildirim, Hamit Kucuk, Riza Can Kardas, Ahmed Hatem Laymouna, Mahmoud Ghanema, Moustafa Ali Saad, Seher Sener, Hulya Ercan Emreol, Seza Ozen, Nour Jaber, Mohamad Khalil, Agostino Di Ciaula, Carla Gaggiano, Giuseppe Malizia, Andrea Affronti, Serena Patroniti, Meri Romeo, Jessica Sbalchiero, Francesca Della Casa, Ilaria Mormile, Sara Silvaroli, Maria Francesca Gicchino, Neşe Çabuk Çelik, Maria Tarsia, Anastasios Karamanakos, José Hernández-Rodríguez, Paola Parronchi, Daniela Opris-Belinski, Patrizia Barone, Andreas Recke, Stefania Costi, Paolo Sfriso, Henrique A. Mayrink Giardini, Stefano Gentileschi, Ewa Wiesik-Szewczyk, Ibrahim Vasi, Roberta Loconte, Karina Jahnz-Różyk, Eduardo Martín-Nares, Jiram Torres-Ruiz, Alberto Cauli, Alessandro Conforti, Giacomo Emmi, Francesca Li Gobbi, Giovanni Rosario Biasi, Riccardo Terribili, Piero Ruscitti, Emanuela Del Giudice, Samar Tharwat, Antonio Luca Brucato, Benson Ogunjimi, Andrea Hinojosa-Azaola, Alberto Balistreri, Claudia Fabiani, Bruno Frediani, Luca Cantarini Frontiers in Immunology, 2024
The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases Carla Gaggiano, Antonio Vitale, Abdurrahman Tufan, Gaafar Ragab, Emma Aragona, Ewa Wiesik-Szewczyk, Djouher Ait-Idir, Giovanni Conti, Ludovica Iezzi, Maria Cristina Maggio, Marco Cattalini, Francesco La Torre, Giuseppe Lopalco, Elena Verrecchia, Amato de Paulis, Ali Sahin, Antonella Insalaco, Petros P. Sfikakis, Achille Marino, Micol Frassi, Benson Ogunjimi, Daniela Opris-Belinski, Paola Parronchi, Giacomo Emmi, Farhad Shahram, Francesco Ciccia, Matteo Piga, José Hernández-Rodríguez, Rosa Maria R. Pereira, Maria Alessio, Roberta Naddei, Alma Nunzia Olivieri, Emanuela Del Giudice, Paolo Sfriso, Piero Ruscitti, Francesca Li Gobbi, Hamit Kucuk, Jurgen Sota, Mohamed A. Hussein, Giuseppe Malizia, Karina Jahnz-Różyk, Rawda Sari-Hamidou, Mery Romeo, Francesca Ricci, Fabio Cardinale, Florenzo Iannone, Francesca Della Casa, Marco Francesco Natale, Katerina Laskari, Teresa Giani, Franco Franceschini, Vito Sabato, Derya Yildirim, Valeria Caggiano, Mohamed Tharwat Hegazy, Rosalba Di Marzo, Aleksandra Kucharczyk, Ghalia Khellaf, Maria Tarsia, Ibrahim A. Almaghlouth, Ahmed Hatem Laymouna, Violetta Mastrorilli, Laura Dotta, Luca Benacquista, Salvatore Grosso, Francesca Crisafulli, Veronica Parretti, Heitor F. Giordano, Ayman Abdel-Monem Ahmed Mahmoud, Rossana Nuzzolese, Marta De Musso, Cecilia Beatrice Chighizola, Stefano Gentileschi, Mirella Morrone, Ilenia Di Cola, Veronica Spedicato, Henrique A. Mayrink Giardini, Ibrahim Vasi, Alessandra Renieri, Alessandra Fabbiani, Maria Antonietta Mencarelli, Bruno Frediani, Alberto Balistreri, Gian Marco Tosi, Claudia Fabiani, Merav Lidar, Donato Rigante, Luca Cantarini Frontiers in Medicine, 2022
Development and implementation of the AIDA International Registry for patients with Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis syndrome Francesca Della Casa, Antonio Vitale, Marco Cattalini, Francesco La Torre, Giovanna Capozio, Emanuela Del Giudice, Maria Cristina Maggio, Giovanni Conti, Maria Alessio, Benson Ogunjimi, Gaafar Ragab, Giacomo Emmi, Emma Aragona, Teresa Giani, Giuseppe Lopalco, Paola Parronchi, Farhad Shahram, Elena Verrecchia, Francesca Ricci, Fabio Cardinale, Silvia Di Noi, Rossana Nuzzolese, Riccardo Lubrano, Serena Patroniti, Roberta Naddei, Vito Sabato, Mohamed A. Hussein, Laura Dotta, Violetta Mastrorilli, Stefano Gentileschi, Abdurrahman Tufan, Valeria Caggiano, Mohamed Tharwat Hegazy, Jurgen Sota, Ibrahim A. Almaghlouth, Amr Ibrahim, Ewa Wiȩsik-Szewczyk, Burcugul Ozkiziltas, Salvatore Grosso, Micol Frassi, Maria Tarsia, Rosa Maria R. Pereira, Maged Taymour, Carla Gaggiano, Sergio Colella, Claudia Fabiani, Maria Morrone, Piero Ruscitti, Bruno Frediani, Veronica Spedicato, Henrique A. Mayrink Giardini, Alberto Balistreri, Donato Rigante, Luca Cantarini Frontiers in Pediatrics, 2022
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome Christina Torres Kozycki, Shilpa Kodati, Laryssa Huryn, Hongying Wang, Blake M Warner, Priyam Jani, Dima Hammoud, Mones S Abu-Asab, Yingyos Jittayasothorn, Mary J Mattapallil, Wanxia Li Tsai, Ehsan Ullah, Ping Zhou, Xiaoying Tian, Ariane Soldatos, Niki Moutsopoulos, Marie Kao-Hsieh, Theo Heller, Edward W Cowen, Chyi-Chia Richard Lee, Camilo Toro, Shelley Kalsi, Zohreh Khavandgar, Alan Baer, Margaret Beach, Debra Long Priel, Michele Nehrebecky, Sofia Rosenzweig, Tina Romeo, Natalie Deuitch, Laurie Brenchley, Eileen Pelayo, Wadih Zein, Nida Sen, Alexander H Yang, Gary Farley, David A Sweetser, Lauren Briere, Janine Yang, Fabiano de Oliveira Poswar, Ida Vanessa D Schwartz, Tamires Silva Alves, Perrine Dusser, Isabelle Koné-Paut, Isabelle Touitou, Salah Mohamed Titah, Petrus Martin van Hagen, Rogier T A van Wijck, Peter J van der Spek, Hiromi Yano, Andreas Benneche, Ellen M Apalset, Ragnhild Wivestad Jansson, Rachel R Caspi, Douglas Byron Kuhns, Massimo Gadina, Hidetoshi Takada, Hiroaki Ida, Ryuta Nishikomori, Elena Verrecchia, Eugenio Sangiorgi, Raffaele Manna, Brian P Brooks, Lucia Sobrin, Robert B Hufnagel, David Beck, Feng Shao, Amanda K Ombrello, Ivona Aksentijevich, Daniel L Kastner Annals of the Rheumatic Diseases, 2022
Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: Observational study from the International AIDA Registry Jurgen Sota, Donato Rigante, Rolando Cimaz, Marco Cattalini, Micol Frassi, Raffaele Manna, Ludovico Luca Sicignano, Elena Verrecchia, Emma Aragona, Maria Cristina Maggio, Giuseppe Lopalco, Giacomo Emmi, Paola Parronchi, Alberto Cauli, Ewa Wiesik-Szewczyk, José Hernández-Rodríguez, Carla Gaggiano, Maria Tarsia, Mariam Mourabi, Gaafar Ragab, Antonio Vitale, Claudia Fabiani, Bruno Frediani, Vittoria Lamacchia, Alessandra Renieri, Luca Cantarini Rheumatology United Kingdom, 2021
Right ventricular strain in Anderson-Fabry disease Rosa Lillo, Francesca Graziani, Elena Panaioli, Erica Mencarelli, Maurizio Pieroni, Antonia Camporeale, Raffaele Manna, Ludovico Luca Sicignano, Elena Verrecchia, Antonella Lombardo, Gaetano Antonio Lanza, Filippo Crea International Journal of Cardiology, 2021
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 Carla Gaggiano, Antonio Vitale, Laura Obici, Giampaolo Merlini, Alessandra Soriano, Ombretta Viapiana, Marco Cattalini, Maria Cristina Maggio, Giuseppe Lopalco, Davide Montin, Masen Abdel Jaber, Lorenzo Dagna, Raffaele Manna, Antonella Insalaco, Matteo Piga, Francesco La Torre, Virginia Berlengiero, Viviana Gelardi, Luisa Ciarcia, Giacomo Emmi, Piero Ruscitti, Francesco Caso, Rolando Cimaz, José Hernández-Rodríguez, Paola Parronchi, Ludovico Luca Sicignano, Elena Verrecchia, Florenzo Iannone, Jurgen Sota, Salvatore Grosso, Carlo Salvarani, Bruno Frediani, Roberto Giacomelli, Maria Antonietta Mencarelli, Alessandra Renieri, Donato Rigante, Luca Cantarini Mediators of Inflammation, 2020
Safety profile of the interleukin-1 inhibitors anakinra and canakinumab in real-life clinical practice: a nationwide multicenter retrospective observational study for the “Working Group” of Systemic Autoinflammatory Diseases of SIR (Italian Society of Rheumatology), Jurgen Sota, Antonio Vitale, Antonella Insalaco, Paolo Sfriso, Giuseppe Lopalco, Giacomo Emmi, Marco Cattalini, Raffaele Manna, Rolando Cimaz, Roberta Priori, Rosaria Talarico, Ginevra de Marchi, Micol Frassi, Romina Gallizzi, Alessandra Soriano, Maria Alessio, Daniele Cammelli, Maria Cristina Maggio, Stefano Gentileschi, Renzo Marcolongo, Francesco La Torre, Claudia Fabiani, Serena Colafrancesco, Francesca Ricci, Paola Galozzi, Ombretta Viapiana, Elena Verrecchia, Manuela Pardeo, Lucia Cerrito, Elena Cavallaro, Alma Nunzia Olivieri, Giuseppe Paolazzi, Gianfranco Vitiello, Armin Maier, Elena Silvestri, Chiara Stagnaro, Guido Valesini, Marta Mosca, Salvatore de Vita, Angela Tincani, Giovanni Lapadula, Bruno Frediani, Fabrizio De Benedetti, Florenzo Iannone, Leonardo Punzi, Carlo Salvarani, Mauro Galeazzi, Rossella Angotti, Mario Messina, Gian Marco Tosi, Donato Rigante, Luca Cantarini Clinical Rheumatology, 2018
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 Antonio Vitale, Antonella Insalaco, Paolo Sfriso, Giuseppe Lopalco, Giacomo Emmi, Marco Cattalini, Raffaele Manna, Rolando Cimaz, Roberta Priori, Rosaria Talarico, Stefano Gentileschi, Ginevra de Marchi, Micol Frassi, Romina Gallizzi, Alessandra Soriano, Maria Alessio, Daniele Cammelli, Maria C. Maggio, Renzo Marcolongo, Francesco La Torre, Claudia Fabiani, Serena Colafrancesco, Francesca Ricci, Paola Galozzi, Ombretta Viapiana, Elena Verrecchia, Manuela Pardeo, Lucia Cerrito, Elena Cavallaro, Alma N. Olivieri, Giuseppe Paolazzi, Gianfranco Vitiello, Armin Maier, Elena Silvestri, Chiara Stagnaro, Guido Valesini, Marta Mosca, Salvatore de Vita, Angela Tincani, Giovanni Lapadula, Bruno Frediani, Fabrizio De Benedetti, Florenzo Iannone, Leonardo Punzi, Carlo Salvarani, Mauro Galeazzi, Donato Rigante, Luca Cantarini Frontiers in Pharmacology, 2016
Female reproductive dysfunction in familial Mediterranean fever patients with and without colchicine treatment Clinical and Experimental Rheumatology, 2010
Familial Mediterranean Fever: A review for clinical management Claudia Fonnesu, Claudia Cerquaglia, Maria Giovinale, Valentina Curigliano, Elena Verrecchia, Giuliana de Socio, Micaela La Regina, Giovanni Gasbarrini, Raffaele Manna Joint Bone Spine, 2009
Familial mediterranean fever: A review for clinical management Claudia Fonnesu, Claudia Cerquaglia, Maria Giovinale, Valentina Curigliano, Elena Verrecchia, Giuliana de Socio, Micaela La Regina, Giovanni Gasbarrini, Raffaele Manna Revue Du Rhumatisme Edition Francaise, 2009
Atypical sarcoidosis: Case reports and review of the literature European Review for Medical and Pharmacological Sciences, 2009
Clinical features of Familial Mediterranean Fever: An Italian overview European Review for Medical and Pharmacological Sciences, 2009
Cyclosporine A: Good response for patients affected by autoimmune disorders and HCV infection? European Review for Medical and Pharmacological Sciences, 2009
Gastrointestinal amyloidosis: A case of chronic diarrhoea European Review for Medical and Pharmacological Sciences, 2009
Expanding the Therapeutic Landscape of Pericarditis: A Systematic Review of the Use of Conventional Immunosuppressants AS Giordani, C Menghi, A Risoli, A Baritussio, F Scognamiglio, ... Medicina 62 (5), 887 , 2026 2026
MANAGEMENT OF PLEURO–MYOPERICARDITIS IN A FRAIL OLDER PATIENT: GAP IN EVIDENCE AND LIMITS OF GUIDELINE–BASED THERAPY IN A GERIATRIC DEPARTMENT FOR EMERGENCY CARE A Risoli, G Artuso, G Ozino Caligaris, D Pellerani, L Alessandrini, ... European Heart Journal Supplements 28 (Supplement_6), suag058. 448 , 2026 2026
NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory Disorders B Rosa, E Tabolacci, R Pietrobono, E Sangiorgi, F Gurrieri, P Chiurazzi, ... Genes 17 (4), 421 , 2026 2026
Immune biomarker signature in the diagnostic workup of fever without source: a pilot study AM Di Francesco, G Pasciuto, L Gerardino, LL Sicignano, E Verrecchia, ... Mediterranean Journal of Hematology and Infectious Diseases 18 (1), e2026030 , 2026 2026
Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final … A Toscano, O Musumeci, M Sacchini, S Ravaglia, G Siciliano, A Fiumara, ... Orphanet Journal of Rare Diseases 20 (1), 639 , 2025 2025 Citations: 1
The clinical assessment of lung involvement in patients with Still’s disease, results from the multicentre international AIDA Network Still’s Disease Registry P Ruscitti, A Vitale, I Di Cola, V Caggiano, P Palumbo, E Di Cesare, ... Rheumatology 64 (SI), SI169-SI178 , 2025 2025 Citations: 5
Palliative care for children and adults with inherited metabolic disease in Europe: an underutilised service for supportive treatment and care A Lee, YT Bliksrud, M Onali, J Neugebauer, F Eyskens, D Haas, ... Journal of inherited metabolic disease 48 (6), e70095 , 2025 2025 Citations: 1
Predictors of proteinuria, amyloidosis and kidney failure in familial Mediterranean fever: data from the International AIDA Network Registry A Vitale, V Caggiano, J Sbalchiero, A Tufan, ED Batu, G Ragab, ... Rheumatology 64 (8), 4776-4787 , 2025 2025 Citations: 6
The Role of Cutibacterium acnes in the Etiopathogenesis of Sarcoidosis: Current Insights and Future Study Directions AM Di Francesco, G Pasciuto, E Verrecchia, LL Sicignano, L Gerardino, ... International Journal of Molecular Sciences 26 (14), 6652 , 2025 2025 Citations: 3
Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians’ point of view: the results of an Italian survey A Rossi, C Pancaldi, MG Regazzi, G Agnelli, V Assirelli, A Barbato, ... Orphanet Journal of Rare Diseases 20 (1), 241 , 2025 2025 Citations: 1
Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study D Di Natale, S Rossi, G Dalla Zanna, A Funcis, TF Nicoletti, LL Sicignano, ... Brain Sciences 15 (2), 166 , 2025 2025 Citations: 3
Duration of Disease and Long‐Term Outcomes in Patients With Difficult‐To‐Treat Recurrent Pericarditis: A Chronic Condition Treated With Nonsteroidal Anti‐Inflammatory Drugs … E Ceriani, F Agozzino, S Berra, A Gidaro, P Bindi, A Pavarani, S Macchi, ... ACR open rheumatology 7 (1), e11776 , 2025 2025 Citations: 19
Role of Circulating X-Chromosome Inactivation and Xist as Biomarkers in Female Carriers of Fabry Disease S Rossi, A Fargnoli, D Di Natale, G Dalla Zanna, A Funcis, F Re, ... International Journal of Translational Medicine 4 (4), 618-630 , 2024 2024
The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective G Castaman, S Linari, A Barbato, N Costantino, C Dionisi-Vici, F Menni, ... Journal of Clinical Medicine 13 (22), 6981 , 2024 2024 Citations: 5
Recurrent pericarditis in older adults: clinical and laboratory features and outcome E Bizzi, F Cavaleri, R Mascolo, E Conte, S Maggiolini, CC Decarlini, ... Journal of the American Geriatrics Society 72 (11), 3467-3475 , 2024 2024 Citations: 5
Efficacy and safety of anakinra in radiation-induced acute pericarditis: a case report LL Sicignano, CA Murace, A Palazzo, E Verrecchia, MG Massaro, ... Frontiers in Cardiovascular Medicine 11, 1491361 , 2024 2024 Citations: 1
Sarcoidosis and cancer: the role of the granulomatous reaction as a double-edged sword AM Di Francesco, G Pasciuto, E Verrecchia, LL Sicignano, L Gerardino, ... Journal of Clinical Medicine 13 (17), 5232 , 2024 2024 Citations: 7
Duration of Disease and Long-Term outcomes in patients with difficult-to-treat recurrent pericarditis: a chronic Condition treated with NSAIDs, Colchicine, corticosteroids, and … A Brucato, E Ceriani, F Agozzino, S Berra, A Gidaro, S Macchi, L Vena, ... ARTHRITIS & RHEUMATOLOGY 76, 4147-4148 , 2024 2024 Citations: 1
Risk for cancer development in familial Mediterranean fever and associated predisposing factors: an ambidirectional cohort study from the international AIDA Network registries A Vitale, V Caggiano, A Tufan, G Ragab, ED Batu, P Portincasa, ... Frontiers in immunology 15, 1397890 , 2024 2024 Citations: 6
# 2456 Real world outcomes of Fabry disease in Italian excellence centers: the ground study A Pisani, I Olivotto, R Mignani, F Pieruzzi, B Tuttolomondo, D Noto, ... Nephrology Dialysis Transplantation 39 (Supplement_1), gfae069-0592-2456 , 2024 2024
MOST CITED SCHOLAR PUBLICATIONS
Familial Mediterranean Fever: a review for clinical management C Fonnesu, C Cerquaglia, M Giovinale, V Curigliano, E Verrecchia, ... Joint Bone Spine 76 (3), 227-233 , 2009 2009 Citations: 172
Atypical sarcoidosis: case reports and review of the literature. M Giovinale, C Fonnesu, A Soriano, C Cerquaglia, V Curigliano, ... European Review for Medical & Pharmacological Sciences 13 , 2009 2009 Citations: 120
Giant cell arteritis and polymyalgia rheumatica after influenza vaccination: report of 10 cases and review of the literature A Soriano, E Verrecchia, A Marinaro, M Giovinale, C Fonnesu, R Landolfi, ... Lupus 21 (2), 153-157 , 2012 2012 Citations: 102
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 … A Vitale, A Insalaco, P Sfriso, G Lopalco, G Emmi, M Cattalini, R Manna, ... Frontiers in pharmacology 7, 380 , 2016 2016 Citations: 101
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis F Caso, L Costa, D Rigante, A Vitale, R Cimaz, OM Lucherini, P Sfriso, ... Autoimmunity Reviews 13 (12), 1220-1229 , 2014 2014 Citations: 100
Safety profile of the interleukin-1 inhibitors anakinra and canakinumab in real-life clinical practice: a nationwide multicenter retrospective observational study J Sota, A Vitale, A Insalaco, P Sfriso, G Lopalco, G Emmi, M Cattalini, ... Clinical Rheumatology 37 (8), 2233-2240 , 2018 2018 Citations: 85
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of … CT Kozycki, S Kodati, L Huryn, H Wang, BM Warner, P Jani, D Hammoud, ... Annals of the rheumatic diseases 81 (10), 1453-1464 , 2022 2022 Citations: 75
Diagnostic criteria for adult-onset periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome L Cantarini, A Vitale, LL Sicignano, G Emmi, E Verrecchia, I Patisso, ... Frontiers in immunology 8, 1018 , 2017 2017 Citations: 72
Right ventricular hypertrophy, systolic function, and disease severity in Anderson-Fabry disease: an echocardiographic study F Graziani, M Laurito, M Pieroni, F Pennestri, GA Lanza, V Coluccia, ... Journal of the American Society of Echocardiography 30 (3), 282-291 , 2017 2017 Citations: 66
Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses M Rigoldi, E Verrecchia, R Manna, MT Mascia Italian Journal of Pediatrics 44 (Suppl 2), 132 , 2018 2018 Citations: 44
Current advances in the understanding and treatment of mevalonate kinase deficiency S Esposito, B Ascolese, L Senatore, S Bosis, E Verrecchia, L Cantarini, ... International journal of immunopathology and pharmacology 27 (4), 491-498 , 2014 2014 Citations: 44
Clinical features of familial Mediterranean fever: an Italian overview. R Manna, C Cerquaglia, V Curigliano, C Fonnesu, M Giovinale, ... European Review for Medical & Pharmacological Sciences 13 , 2009 2009 Citations: 44
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome E Sangiorgi, A Azzarà, C Molinario, R Pietrobono, D Rigante, ... European Journal of Human Genetics 27 (9), 1361-1368 , 2019 2019 Citations: 39
Prognostic significance of right ventricular hypertrophy and systolic function in Anderson–Fabry disease F Graziani*, R Lillo, E Panaioli, M Pieroni, A Camporeale, E Verrecchia, ... ESC heart failure 7 (4), 1605-1614 , 2020 2020 Citations: 38
Efficacy of etanercept in the treatment of a patient with Behçet’s disease V Curigliano, M Giovinale, C Fonnesu, C Cerquaglia, E Verrecchia, ... Clinical Rheumatology 27 (7), 933-936 , 2008 2008 Citations: 38
Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF‐ α Receptor—Associated Periodic Syndrome (TRAPS): A Series of … C Gaggiano, A Vitale, L Obici, G Merlini, A Soriano, O Viapiana, ... Mediators of Inflammation 2020 (1), 8562485 , 2020 2020 Citations: 37
Macular impairment in Fabry disease: a morpho-functional assessment by swept-source OCT angiography and focal electroretinography AM Minnella, L Barbano, E Verrecchia, F Martelli, V Pagliei, G Gambini, ... Investigative Ophthalmology & Visual Science 60 (7), 2667-2675 , 2019 2019 Citations: 30
The autoinflammatory diseases alliance registry of monogenic autoinflammatory diseases C Gaggiano, A Vitale, A Tufan, G Ragab, E Aragona, E Wiesik-Szewczyk, ... Frontiers in medicine 9, 980679 , 2022 2022 Citations: 27
NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence F Del Porto, N Cifani, M Proietta, E Verrecchia, R Di Rosa, R Manna, ... Rheumatology 59 (11), 3129-3136 , 2020 2020 Citations: 27
Astrocytes underlie neuroinflammatory memory impairment LA Osso, JR Chan Cell 163 (7), 1574-1576 , 2015 2015 Citations: 27