Publications by authors named "Marie Meignien"
Rev Med Interne
January 2025
Article Synopsis
- Chronic Q fever, caused by Coxiella burnetii, is challenging to diagnose due to difficult bacterial growth and often negative blood cultures.
- A case of a 69-year-old man with general health decline and low back pain revealed L3-L4 abscessed spondylodiscitis, but blood tests remained sterile and echocardiograms normal, leading to a chronic Q fever diagnosis through serology.
- The management of chronic Q fever requires a multidisciplinary approach, with serology being critical for diagnosis despite available imaging and molecular tests.
Article Synopsis
- STAT2 is a crucial transcription factor activated by specific interferons, and 23 patients with mutations leading to a complete loss of STAT2 function were studied.
- These patients suffered from severe immune issues, including disastrous reactions to live vaccines and deadly viral infections like critical influenza and COVID-19 pneumonia.
- The study emphasizes the danger of AR complete STAT2 deficiency, as it causes significant inflammation and high mortality rates, especially in young children, due to unregulated viral responses.
Article Synopsis
- Autosomal recessive PRKCD deficiency is linked to systemic lupus erythematosus, but its specific mechanisms are not well understood.
- Researchers created a mouse model with the Prkcd G510S mutation to study the disease, which mimics human symptoms and shows a shortened lifespan.
- The study found that this mutation affects B cell activation through the PI3K/mTOR pathway, leading to autoimmune symptoms that improve with rapamycin treatment, highlighting the pathway's role in PRKCD-related autoimmunity and reduced NK cell levels contributing to viral infection susceptibility.
