Publications by authors named "R Effner"
Background: Serine protease-like (Spl) proteins produced by Staphylococcus (S.) aureus have been associated with allergic inflammation. However, effects of Spls on the epidermal immune response have not been investigated.
View Article and Find Full Text PDFHyper-IgE syndromes (HIES) are a group of inborn errors of immunity (IEI) caused by monogenic defects such as in the gene STAT3 (STAT3-HIES). Patients suffering from HIES show an increased susceptibility to Staphylococcus aureus (S. aureus) including skin abscesses and pulmonary infections.
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- STAT3-hyper IgE syndrome (STAT3-HIES) is a genetic immune disorder causing lung issues and other symptoms.
- CRISPR-Cas9 technology has been utilized to correct a specific mutation (p.R382W) associated with this condition in patient-derived fibroblasts and iPSCs, achieving about 29%-30% correction efficiency without harmful off-target effects.
- The treated cells demonstrated improved STAT3 signaling and maintained their ability to develop into functional alveolar organoids, suggesting ABE-based gene editing could be a promising treatment for STAT3-HIES.
The mechanisms how environmental compounds influence the human immune system are unknown. The environmentally sensitive transcription factor aryl hydrocarbon receptor (AHR) has immune-modulating functions and responds to small molecules. Cytochrome P4501 enzymes (CYP1) act downstream of the AHR and metabolize small molecules.
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