Publications by authors named "J Pachlopnik"
Article Synopsis
- Interleukin inhibitors are key treatments for conditions like colchicine-resistant familial Mediterranean fever (crFMF), mevalonate kinase deficiency (MKD), and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), but the reasons for their use remain unclear.
- An analysis of data from an international registry and literature review revealed that the primary reasons for using IL-1 blockers include treatment failure, persistent disease activity, severe complications, and a decline in patients' quality of life.
- The study highlights the need for standardized treatment guidelines, suggesting that the findings could help develop a clear strategy for using IL-1 inhibitors in these hereditary recurrent fevers.
Severe Combined Immunodeficiency (SCID) is one of the most severe forms of Primary Immunodeficiencies (PID) and leads to a potentially fatal course of disease without early and definitive treatment. Adequate management, from the first days of life, can improve the survival and outcome of patients with SCID. This can be achieved through newborn screening (NBS) based on the measurement of T-cell receptor excision circles (TREC).
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- This study focuses on a newly identified autoinflammatory disease caused by mutations in a tRNA processing enzyme, particularly examining its clinical features, immune responses, and molecular mechanisms.
- In nine patients diagnosed with congenital sideroblastic anemia, significant genetic mutations were found, along with elevated inflammatory cytokines and notable cellular abnormalities.
- Treatment with a TNF inhibitor successfully reduced inflammation and improved patient outcomes, highlighting the importance of early molecular diagnosis for effective intervention.