Publications by authors named "Enrico Drago"
Multisystem inflammatory syndrome in children (MIS-C) has been reported in patients with inborn errors of immunity (IEI), providing insights into disease pathogenesis. Here, we present the first case of MIS-C in a child affected by Wiskott-Aldrich syndrome (WAS) gene mutation, elucidating underlying predisposing factors and the involved inflammatory pathways. Genetic analysis revealed a frameshift truncating variant in the WAS gene, resulting in WAS protein expression between mild and severe forms, despite a clinical phenotype resembling X-linked thrombocytopenia (XLT).
View Article and Find Full Text PDFMajeed syndrome: first description in a patient of central-European ancestry.
Rheumatology (Oxford)
September 2024
Objectives: We present the first case of a Majeed syndrome in a girl of central-European ancestry.
Methods: : Patient's medical records were reviewed. A NGS panel for autoinflammatory diseases was performed and the mutation was confirmed by Sanger analysis.
Syndrome of undifferentiated recurrent fever (SURF) is characterized by recurrent fevers, a lack of confirmed molecular diagnosis, and a complete or partial response to colchicine. Despite the clinical similarities to familial Mediterranean fever (FMF), the underlying inflammatory mechanisms of SURF are not yet understood. We here analyzed the in vitro activation of the pyrin inflammasome in a cohort of SURF patients compared to FMF and PFAPA patients.
View Article and Find Full Text PDFArticle Synopsis
- Multisystem inflammatory syndrome in children (MIS-C) is a serious condition related to COVID-19 that may be influenced by different virus variants and vaccination.
- * The study examined MIS-C cases at Gaslini Children's Hospital from October 2020 to November 2022, finding a notable decrease in cases as vaccinations began and variants changed, without major changes in symptoms or treatment.
- * The results suggest that while the incidence of MIS-C declined with variations of the virus and vaccination, the symptoms and severity of the cases remained consistent throughout the pandemic.*
Article Synopsis
- Treating infantile-onset inflammatory bowel disease (IO-IBD) can be difficult because standard treatments often fail, necessitating the use of biologics like anti-tumor necrosis factor therapy.
- A case study of a 5-month-old boy with IO-IBD showed that therapeutic drug monitoring (TDM) for high-dose adalimumab (ADA) helped manage the disease, especially after the patient developed antibodies against the drug.
- The successful adjustment in dosing led to the disappearance of these antibodies and sustained remission, suggesting that TDM-guided high-dose therapy could be a viable alternative to combination treatments, particularly for very young patients.
Lactic acidosis is characterized by an excessive production of lactic acid or by its impaired clearance. Thiamine deficiency is an uncommon cause of lactic acidosis, especially in countries where malnutrition is rare. We describe the case of a 5-year-old boy who presented with a central nervous system relapse of acute lymphoblastic leukemia.
View Article and Find Full Text PDFDeficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, including systemic vasculitis, immunodeficiency, and cytopenia. We report a case of a 16-year-old girl affected by recurrent viral infections [including cytomegalovirus (CMV)-related hepatitis and measles vaccine virus-associated manifestations] and persistent inflammation, which occurred after Parvovirus infection and complicated by secondary hemophagocytic lymphohistiocytosis (HLH). HLH's first episode presented at 6 years of age and was preceded by persistent fever and arthralgia with evidence of Parvovirus B19 infection.
View Article and Find Full Text PDFArticle Synopsis
- FOXP3 is a key transcription factor for regulatory T cells, and mutations in this gene can cause an X-linked syndrome called IPEX, characterized by symptoms like severe diarrhea, diabetes, and eczema.
- The study presents two unique cases of patients with rare associations to IPEX, involving inflammatory and kidney issues identified through advanced genetic screening.
- Both patients exhibited atypical symptoms: one with autoimmune lymphoproliferative syndrome and kidney problems, and the other with bone marrow failure leading to IgG4-related kidney disease, highlighting the need to recognize these conditions as part of IPEX's clinical spectrum.
Diagnosis of invasive aspergillosis (IA) is challenging, particularly in high-risk patients with lung lesions other than typical according to 2008-EORTC/MSG criteria. Even if microbiology is positive, they still remain unclassified according to 2008-EORTC/MSG. Quantitative polymerase chain reaction (qPCR) provides new mycological documentation of IA.
View Article and Find Full Text PDFAims: The implementation of 12-lead ECG in the pre-participation screening of young athletes is still controversial and number of issues are largely debated, including the prevalence and spectrum of ECG abnormalities found in individuals undergoing pre-participation screening.
Methods And Results: We assessed a large, unselected population of 32,652 subjects [26 050 (80%) males], prospectively examined in 19 clinics associated to Italian Sports Medicine Federation. Most were young amateur athletes, aged 8-78 years (median 17), predominantly students (68%), engaged predominantly in soccer (39%), volleyball or basketball (8% each), athletics (6%), cycling (5%), swimming (4%).