Publications by authors named "C Hurabielle"
Background: Systemic lupus erythematosus (SLE) has numerous symptoms across organs and an unpredictable flare-remittance pattern. This has made it challenging to understand drivers of long-term SLE outcomes. Our objective was to identify whether changes in DNA methylation over time, in an actively flaring SLE cohort, were associated with remission and whether these changes meaningfully subtype SLE patients.
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- Vitamin B12 is essential for blood cell formation and nerve insulation, and its deficiency can lead to neurological issues despite normal blood levels, as seen in a patient with symptoms like tremor and cognitive decline.
- Researchers discovered an autoantibody against the transcobalamin receptor (CD320) that hinders vitamin B12 uptake in the brain, resulting in low levels found in cerebrospinal fluid even when blood levels appear normal.
- The study suggests this autoimmune condition can be treated with immunosuppressive therapy and high-dose vitamin B12, and highlights the importance of recognizing how B12 transport differs in various tissues, which could improve diagnosis and treatment strategies for similar neurological disorders.
Article Synopsis
- Inborn errors of immunity (IEI) are a group of 485 disorders identified in 2022, highlighting genetic causes and their relevance in various immune-related conditions.
- Recent advancements in genomic technologies have accelerated the discovery of IEI and contributed to the development of new treatment strategies.
- This review will focus on the complexities of IEI, including the differences between primary immunodeficiencies (PIDD) and primary immune regulatory disorders (PIRD), Mendelian inheritance patterns, and the role of functional genomics in better understanding and treating these disorders.
Article Synopsis
- Multisystem inflammatory syndrome in adults (MIS-A) is a serious condition linked to COVID-19 that can cause severe health issues and higher mortality rates.* -
- Three cases of MIS-A were analyzed, revealing symptoms like cardiogenic shock and high inflammatory markers, with one patient also developing Type 1 diabetes and sepsis.* -
- All patients recovered fully with standard treatments and immunotherapy, highlighting the importance of early detection and intervention for effective management of MIS-A symptoms.*