SPINK5变异通过Th2/Th17倾斜驱动Netherton综合征的临床变异性,并影响治疗结果

Melek Yorgun Altunbas1, Erhan Topal2, Feyza Bayram-Catak1

  • 1Marmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul, Türkiye; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Türkiye; The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, Istanbul, Türkiye; European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.

概括

尼瑟顿综合征 (NS) 涉及SPINK5基因突变,导致皮肤屏障缺陷和免疫问题. 需要针对皮肤屏障修复和更广泛的免疫调节的疗法,以获得更好的尼瑟顿综合征结果.

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