Review
Pediatrics
Peter Hur, Kathleen G. Lomax, Raluca Ionescu-Ittu, Ameur M. Manceur, Jipan Xie, Jordan Cammarota, Raju Gautam, Navneet Sanghera, Nina Kim, Alexei A. Grom
Summary: This study provided insights into how canakinumab is initiated in US clinical practice among PFS patients, with physician perceived efficacy/effectiveness of canakinumab, lack of response to previous treatment and favorable safety profile/tolerability of canakinumab being the dominant reasons for canakinumab initiation in all patients and in children and adults and PFS subtypes. Notably, the favorable safety profile/tolerability of canakinumab was more often the reason for initiation among children versus adults.
PEDIATRIC RHEUMATOLOGY
(2021)
Article
Rheumatology
Avishai M. Tsur, Abdulla Watad, Omer Gendelman, Daniel Nissan, Arnon D. Cohen, Howard Amital
Summary: The study found a positive association between FMF and asthma through a cross-sectional study. Further research is needed to validate and explore possible explanations for this association. These findings challenge previous studies that suggested FMF as a protective factor against asthma.
Editorial Material
Dermatology
Ayse Oktem, Gunel Rasulova, Busra Cavdarli, Seher Bostanci, Aylin Heper, Secil Vural
Summary: This passage suggests that the interaction of two mutations in the innate immune system can lead to excessive activation and dysregulation of the inflammasome in skin macrophages. It connects two diseases, hidradenitis suppurativa and porokeratosis, through the common mechanism of autoinflammation.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2023)
Article
Pediatrics
Elif Kilic Konte, Fatih Haslak, Mehmet Yildiz, Neslihan Gucuyener, Ipek Ulkersoy, Aybuke Gunalp, Esma Aslan, Amra Adrovic, Sezgin Sahin, Kenan Barut, Ozgur Kasapcopur
Summary: This study aimed to investigate the demographic and clinical characteristics of children with both FMF and PFAPA syndromes and their response to colchicine and tonsillectomy. The results showed that patients with tonsillopharyngitis, aphthous stomatitis, and PFAPA family history were more likely to be colchicine-resistant and tonsillectomy responsive, while those with exon 10 MEFV gene mutations were more prone to have a favorable response to colchicine.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Rheumatology
Ezgi D. Batu, Emine Vezir, Elmas Ogus, Ozlem Ozbas Demirel, Gizem Akpinar, Selcan Demir, Seza Ozen
Summary: In this study, Galectin-3 was identified as a promising biomarker for differentiating between PFAPA and FMF patients during both disease flares and attack-free periods. The levels of Galectin-3 were significantly lower in PFAPA patients compared to FMF patients, suggesting its potential as a diagnostic marker. Further research with a larger sample size is needed to confirm the role of Galectin-3 as a biomarker in distinguishing between PFAPA and FMF.
RHEUMATOLOGY INTERNATIONAL
(2022)
Review
Biochemistry & Molecular Biology
Maddalena Lancieri, Marta Bustaffa, Serena Palmeri, Ignazia Prigione, Federica Penco, Riccardo Papa, Stefano Volpi, Roberta Caorsi, Marco Gattorno
Summary: This study provides an updated overview on the main aspects of pathophysiology, genetics, diagnosis, and treatment resistance of Familial Mediterranean Fever (FMF), a prototypal autoinflammatory disease. It also emphasizes the importance of FMF in understanding the functioning of the innate immune system.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Rheumatology
Seza Ozen
Summary: Recent studies have revealed new insights into the pathogenesis of familial Mediterranean fever, including genetic mutations conferring resistance to ancient microbial pathogens and recommendations for genetic analysis of FMF. We now have recommendations for assessing genetic analysis of the MEFV gene and how to reliably classify a patient as FMF.
CURRENT OPINION IN RHEUMATOLOGY
(2021)
Article
Pharmacology & Pharmacy
Veronique Hentgen, Isabelle Kone-Paut, Alexandre Belot, Caroline Galeotti, Gilles Grateau, Aurelia Carbasse, Anne Pagnier, Pascal Pillet, Marc Delord, Michael Hofer, Sophie Georgin-Lavialle
Summary: The study found that many patients with hereditary recurrent fever syndromes were using IL-1 inhibitors at lower dosages than recommended, indicating a high variability in individual treatment needs.
FRONTIERS IN PHARMACOLOGY
(2021)
Review
Nutrition & Dietetics
Pasquale Mansueto, Aurelio Seidita, Marta Chiavetta, Dario Genovese, Alessandra Giuliano, Walter Priano, Antonio Carroccio, Alessandra Casuccio, Emanuele Amodio
Summary: This narrative review analyzed the correlation between diet and clinical outcomes of familial Mediterranean fever (FMF). Conflicting results were found regarding the association between high-fat and high-salt food intake and FMF attack recurrence. Wheat was suggested to potentially play a role in FMF. A diet rich in antioxidants and anti-inflammatory supplements may partly reduce symptoms and improve the well-being of FMF patients. However, further studies are needed to clarify the impact of diet on FMF symptom triggering.
Review
Rheumatology
Cengiz Korkmaz, Dondu Uskudar Cansu, Sibel Canbaz Kabay
Summary: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterized by fever and serositis attacks caused by mutations in the MEditerranean FeVer (MEFV) gene encoding the pyrin gene. FMF patients are more likely to develop inflammatory diseases such as Behcet's disease, psoriasis, and vasculitis, as well as multiple sclerosis. The coexistence of FMF and demyelinating disorders in multiple family members is rare, with only a few reported cases.
RHEUMATOLOGY INTERNATIONAL
(2022)
Article
Rheumatology
Norbert Blank, Ina Koetter, Marc Schmalzing, Juergen Rech, Karoline Krause, Birgit Koehler, Dorothee Kaudewitz, Martin Nitschke, Christian S. Haas, Hanns-Martin Lorenz, Martin Krusche
Summary: This study investigated the clinical symptoms and genetic variants of patients with autoimmune orphan diseases who received anti-IL-1 targeted therapy. The results showed that most patients experienced inflammatory attacks before the age of 18, with an average delay of 17.8 years in starting anti-IL-1 therapy. Genetic analysis confirmed the diagnosis in a majority of patients and identified some variants of unknown significance. Additionally, some patients had secondary AA amyloidosis at the initiation of anti-IL-1 therapy. Turkish-Armenian ancestry was found to be associated with higher disease activity in familial Mediterranean fever.
RHEUMATOLOGY INTERNATIONAL
(2023)
Article
Immunology
Maeva Veyssiere, Sara Sadat Aghamiri, Arturo Hernandez Cervantes, Thomas Henry, Vassili Soumelis
Summary: This study aimed to provide a computational model capturing the mechanistic details of biological pathways involved in FMF physiopathology and studying the dynamics of the patient's immune cells. By building a molecular map and a mathematical model of FMF, the researchers were able to identify key players in the disease inflammation phenotype. The results of the study showed that NF-kappa B and JAK1/TYK2 play critical roles in modulating the inflammatory response.
CLINICAL IMMUNOLOGY
(2023)
Article
Pediatrics
Selen Duygu Arik, Gulsah Kavrul Kayaalp, Vafa Guliyeva, Fatma Gul Demirkan, Ayse Tanatar, Ozlem Akgun, Sengul Caglayan, Kadir Ulu, Taner Coskuner, Serife Gul Karadag, Betul Sozeri, Nuray Aktay Ayaz
Summary: This study compared the characteristics of FMF patients with and without fever during their attacks and highlighted the different clinical presentations of FMF in children.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Rheumatology
Betul Sozeri, Ferhat Demir, Hafize Emine Sonmez, Serife Gul Karadag, Yasemin Kendir Demirkol, Ozlem Akgun Dogan, Hamdi Levent Doganay, Nuray Aktay Ayaz
Summary: This study found that clinical diagnostic criteria may not always be sufficient to establish the correct diagnosis, with a low accordance between clinical diagnoses and molecular analyses. In cases of patients with preliminary diagnosis of monogenic SAID and negative target gene analysis, other autoinflammatory diseases should also be considered in the differential diagnosis.
CLINICAL RHEUMATOLOGY
(2021)
Article
Medicine, General & Internal
Zehra Serap Arici, Micol Romano, David Piskin, Ferhat Guzel, Sezgin Sahin, Roberta A. Berard, Mahmut Yilmaz, Erkan Demirkaya
Summary: This study aimed to compare the clinical phenotype of patients with FMF-related AA amyloidosis based on age of FMF diagnosis and E148Q genotype. The most common clinical manifestations were fever, abdominal pain, and arthritis. The study found M694V and E148Q to be the most common genetic mutations, with higher mortality rate among patients with homozygous M694V genotype and the need for close monitoring of patients with homozygous E148Q genotype. The relationship between E148Q and AA amyloidosis warrants further confirmation in other ethnicities.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Ophthalmology
Maria Tarsia, Carla Gaggiano, Elisa Gessaroli, Salvatore Grosso, Gian Marco Tosi, Bruno Frediani, Luca Cantarini, Claudia Fabiani
Summary: Posterior idiopathic scleritis is the most common type of scleritis observed in childhood, but anterior and necrotizing inflammatory scleritis can also occur. While less common than in adults, systemic disorders can be associated with scleral inflammation in children and should be promptly recognized and treated to prevent complications. A multidisciplinary diagnostic work-up is necessary to rule out infectious and autoimmune causes and tailor treatment to the specific patient.
OCULAR IMMUNOLOGY AND INFLAMMATION
(2023)
Article
Rheumatology
Edoardo Conticini, Paolo Falsetti, Silvia Grazzini, Caterina Baldi, Roberto D'Alessandro, Suhel Gabriele Al Khayyat, Giovanni Biasi, Francesca Bellisai, Marco Bardelli, Stefano Gentileschi, Estrella Garcia-Gonzalez, Nila Volpi, Stefano Barbagli, Marta Fabbroni, Miriana d'Alessandro, Elena Bargagli, Luca Cantarini, Bruno Frediani
Summary: This study evaluated the diagnostic accuracy of power Doppler ultrasonography (PDUS) score in patients with idiopathic inflammatory myopathies (IIM) and its usefulness during follow-up. The findings suggest that PDUS is a reliable diagnostic tool and can be used for monitoring patients with IIM.
Article
Rheumatology
Rabia Deniz, Zeliha Emrence, Yasemin Yalcinkaya, Bahar Artim Esen, Murat Inanc, Mahdume Lale Ocal, Ahmet Gul
Summary: The skin pathergy test (SPT) conducted using a 20G needle prick and PS-23 antigens has been shown to have improved sensitivity in the diagnosis of Behcet disease (BD). This method can increase the diagnostic rate of BD, especially in patients with active disease.
Review
Immunology
Silvia Grazzini, Chiara Rizzo, Edoardo Conticini, Roberto D'Alessandro, Lidia La Barbera, Miriana D'Alessandro, Paolo Falsetti, Elena Bargagli, Giuliana Guggino, Luca Cantarini, Bruno Frediani
Summary: Idiopathic inflammatory myopathies (IIM) are a group of diseases that affect striate muscle, lung, joints, skin, and gastrointestinal tract. The current treatment mainly involves glucocorticoids and immunosuppressants. However, for refractory cases, the use of biologic disease modifying drugs (bDMARDs) has shown promising results.
AUTOIMMUNITY REVIEWS
(2023)
Review
Immunology
Antonio Vitale, Valeria Caggiano, Virginia Berlengiero, Maria Orsetta Perfetti, Jurgen Sota, Gian Marco Tosi, Bruno Frediani, Luca Cantarini, Claudia Fabiani
Summary: Behcet's disease (BD) associated uveitis occurs in a significant percentage of patients and can lead to severe visual impairment. Treatment with tumor necrosis factor (TNF) inhibitors and other biologic agents shows promise, but more evidence is needed. The Auto-Inflammatory Disease Alliance (AIDA) Network is working on an international registry to address the unmet needs in the clinical practice.
EXPERT REVIEW OF CLINICAL IMMUNOLOGY
(2023)
Review
Medicine, General & Internal
Antonio Vitale, Valeria Caggiano, Antonio Bimonte, Federico Caroni, Gian Marco Tosi, Alessandra Fabbiani, Alessandra Renieri, Monica Bocchia, Bruno Frediani, Claudia Fabiani, Luca Cantarini
Summary: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an acquired monogenic autoinflammatory disease caused by somatic mutations of the UBA1 gene, leading to systemic inflammation. It has a heterogeneous clinical picture resembling various other systemic rheumatic diseases coexisting with hematological disorders, especially myelodysplastic syndrome. This syndrome represents a fascinating clinical condition of adult-onset monogenic autoinflammatory diseases caused by genetic mosaicism originating from bone marrow disorders. It should be considered in patients with unexplained systemic inflammatory conditions, particularly when accompanied by myelodysplastic syndrome or other hematological disorders.
INTERNAL AND EMERGENCY MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Paola Triggianese, Mauro Fatica, Francesco Caso, Luisa Costa, Arianna D'Antonio, Marco Tasso, Elisabetta Greco, Paola Conigliaro, Alberto Bergamini, Claudia Fabiani, Luca Cantarini, Maria Sole Chimenti
Summary: Non-infectious uveitis (NIU) is often the initial manifestation of systemic rheumatic diseases, and rheumatologists play a crucial role in its diagnosis and treatment. This study evaluated 130 patients with NIU and found that anterior uveitis (AU) was the most common type, predominantly associated with spondyloarthritis (SpA). HLA-B27(+) patients had a higher prevalence of AU with an acute course, while HLA-B51(+) patients had mostly posterior uveitis (PU) with a recurrent course. Rheumatologic referral significantly influenced the treatment strategies for NIU.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Vincenzo Venerito, Pasquale Stefanizzi, Luca Cantarini, Marlea Lavista, Maria Grazia Galeone, Antonio Di Lorenzo, Florenzo Iannone, Silvio Tafuri, Giuseppe Lopalco
Summary: RA patients treated with JAK inhibitors or anti-cellular bDMARDS have an increased risk of herpes zoster (HZ). This prospective study assessed the immunogenicity and safety of the Adjuvanted Recombinant Zoster Vaccine (RZV) in RA patients on JAK inhibitors or anti-cellular bDMARDS. The results showed that RZV vaccination induced a similar immune response in RA patients compared to healthy controls, regardless of the treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Allergy
Dylan Lawless, Hana Lango Allen, James E. D. Thaventhiran, Sarah Goddard, Oliver S. Burren, Evie Robson, N. I. H. R. BioResource Rare Dis Consortium NIHR BioResource Rare Dis Consortium, Daniel Peckham, Kenneth G. C. Smith, Sinisa Savic
Summary: This study analyzed the manifestation of cystic fibrosis (CF), a common genetic disorder, in patients with primary immunodeficiency (PID). The research found that patients carrying specific CFTR gene variants had worse outcome in terms of structural lung disease. Genome sequencing also identified cases of CFTR dysfunction in PID, suggesting the potential of precision medicine in treating traditional Mendelian disorders.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2023)
Article
Rheumatology
Edoardo Conticini, Marco Bardelli, Antonio Vitale, Renato De Stefano, Paolo Falsetti, Enrico Selvi, Maria Romana Bacarelli, Roberto D'Alessandro, Luca Cantarini, Bruno Frediani, Stefano Gentileschi
Summary: This study retrospectively evaluated histological and autoimmunity data from patients suspected of having SS who underwent MSGB. The results showed that MSGB is a useful diagnostic tool for SS and there is a correlation between histological findings and autoimmune profiles.
Article
Chemistry, Medicinal
Ozge Soylu-Eter, Zekiye Seyma Sevincli, Betul Ersoy, Bahar Hasanusta, Ugur Gatfar, Nathan A. Lack, Burak Erman, Ahmet Gul, Hakan S. Orer, Nilgun Karali
Summary: This study aimed to develop drugs with anti-interleukin-1 activity. Through evaluation and screening of compounds, as well as in vitro studies and molecular modeling, it was found that compounds 78 and 81 had the strongest IL-1 receptor inhibitory effects and the most favorable drug-like properties.
ARCHIV DER PHARMAZIE
(2023)
Letter
Hematology
Adam Al-Hakim, Austin Kulasekararaj, Mohsen Norouzi, Ruth Medlock, Fraser Patrick, Catherine Cargo, Sinisa Savic
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Rheumatology
Murat Bektas, Nevzat Koca, Emin Oguz, Selma Sari, Gizem Dagci, Burak Ince, Pelin Karaca Ozer, Besim Fazil Agargun, Yasemin Yalcinkaya, Bahar Artim-Esen, Lale Ocal, Murat Inanc, Ahmet Gul
Summary: This study evaluated the clinical, laboratory, and genetic characteristics of patients with AA amyloidosis in Turkey. It found that FMF is the most common cause of AA amyloidosis and patients with homozygous or compound heterozygous MEFV exon 10 variants tend to develop the disease earlier. Patients with a low estimated glomerular filtration rate at admission had a higher risk of progressing to end-stage renal disease. The study also found that the mortality rate increased with the amyloid burden.
Article
Rheumatology
Caterina Matucci-Cerinic, Helene Palluy, Sulaiman Al-Mayouf, Paul A. Brogan, Luca Cantarini, Ahmet Gul, Ozgur Kasapcopur, Jasmin Kuemmerle-Deschner, Seza Ozen, David Saadoun, Farhad Shahram, Francesca Bovis, Eugenia Mosci, Nicolino Ruperto, Marco Gattorno, Isabelle Kone-Paut
Summary: The objective of this study was to validate the PEDiatric Behcet's Disease classification criteria (PEDBD) using an evidence-based approach. The results showed that the PEDBD criteria were highly specific, while the ICBD criteria were more sensitive. Further research is needed to evaluate the performance of the criteria.
Article
Radiology, Nuclear Medicine & Medical Imaging
Suhel G. Al Khayyat, Giuseppe Fogliame, Stefano Barbagli, Edoardo Conticini, Marta Fabbroni, Roberto D'Alessandro, Antonio Vitale, Stefano Gentileschi, Marco Bardelli, Caterina Baldi, Salvatore Massimo Stella, Annarita Saponara, Andrea Del Chiaro, Paolo Falsetti, Luca Cantarini, Bruno Frediani
Summary: In this study, ultrasound-guided corticosteroid sacroiliac joint injection was used to treat active sacroiliitis, and it was found to significantly reduce pain and maintain efficacy for up to 6 months.
JOURNAL OF ULTRASOUND
(2023)