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SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes | Synapse
March 3, 2026
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SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes
MA
Melek Yorgun Altunbas
Marmara University
ET
Erhan Topal
Marmara University
FB
Feyza Bayram-Catak
Marmara University
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Puntos clave
Clinical variability in Netherton syndrome is driven by SPINK5 gene variants, specifically affecting Th2 and Th17 pathways.
Key findings indicate that altered immune responses correspond to specific SPINK5 variants; understanding these ties is critical.
Analysis of genetic data and clinical outcomes suggests targeted therapies may yield better results based on identified variants.
Therapeutic implications highlight the potential for personalized treatment approaches, though further validation is necessary.
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Altunbas et al. (Thu,) studied this question.
synapsesocial.com/papers/69a75aa8c6e9836116a20c26
https://doi.org/https://doi.org/10.1016/j.jaip.2026.01.009