Publications by authors named "C Sartirana"
Article Synopsis
- The study examines a previously healthy patient who suffered two severe infections: West Nile Virus (WNV) and SARS-CoV-2, revealing factors that contributed to the severity of these illnesses.
- During the hospital stay for COVID-19, the patient was diagnosed with a thymoma, a tumor of the thymus gland, which was present during the WNV infection.
- Genetic factors, such as certain variants in the TLR3 and CCR5 genes, as well as the presence of auto-antibodies linked to the thymoma, were identified as increasing the patient's susceptibility to serious complications from both infections.
Article Synopsis
- Gain-of-function mutations in STING lead to STING-associated vasculopathy with onset in infancy (SAVI), which is marked by systemic inflammation, skin issues, and lung disease.
- A new STING variant (F269S) was discovered in a SAVI patient; this variant causes abnormal activation of immune pathways and an increase in circulating naïve T cells in the patient's bone marrow.
- The STING F269S variant enhances protein signaling and protects against viral infections but disrupts immune function, contributing to inflammation and damage in endothelial cells, thereby linking immune and lung diseases.
Vigna unguiculata L. Walp. is an African crop spread worldwide mainly for pulses production.
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- DADA2 is a rare genetic disorder that affects both immune function and blood health, leading to symptoms like vasculitis and increased risk of strokes, as seen in two identical twin sisters studied in this report.
- Genetic testing revealed both twins lacked adenosine deaminase 2 activity due to mutations inherited from each parent, contributing to their severe health issues.
- The twins' disease progression varied significantly; one sister required urgent stem cell transplantation due to severe neutropenia, while the other was managed with medication, illustrating the importance of early diagnosis and tailored treatment plans for DADA2.
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease.
Maddalena Migliavacca Luca Basso Ricci Giada Farinelli Valeria Calbi Francesca Tucci Claudia Sartirana
J Clin Immunol
November 2022
X-linked chronic granulomatous disease is a rare disease caused by mutations in the CYBB gene. While more extensive knowledge is available on genetics, pathogenesis, and possible therapeutic options, mitochondrial activity and its implications on patient monitoring are still not well-characterized. We have developed a novel protocol to study mitochondrial activity on whole blood of XCGD patients before and after transplantation, as well as on XCGD carriers.
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