Publications by authors named "Agustin D Rizzo"

Article Synopsis
  • XIAP deficiency is a rare genetic immune disorder linked to mutations in the XIAP gene, often diagnosed through flow cytometry to detect the absence of XIAP protein.
  • To enhance diagnostics, researchers explored how specifically stimulating leukocytes with L18-muramyl Di-Peptide (a NOD2 agonist) impacts the down-regulation of the L-selectin molecule, providing insights into XIAP functionality.
  • The study found that neutrophils and monocytes from XIAP-deficient patients exhibited significantly reduced CD62-L response to L18-MDP compared to healthy controls, indicating a dysfunction in the NOD2-XIAP signaling pathway, while the response to lipopolysaccharide was normal.
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