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Netherton Syndrome
Loss of Function

Netherton Syndrome

  • Genotype

    SPINK5 KO

  • Mechanism

    Loss of Function

  • Phenotype

    Wall rubbing, Irritability, Sleep disturbances, Anxiety, Locomotor activity

  • Biomarker

    Histamine, S100 proteins, Serum albumin

  • Gene Expression Markers

    flg, cldn1, TNF-α, camp, cd4, cd8

  • Physiology Changes

    Increased skin permeability, Increased local inflammation, Erythema and irritation, Reduced growth, Lethargy

  • Histology Grading Endpoint

    Thinning or detachment of stratum corneum, Thickened epidermis, Epidermal edema,Infiltration of immune cells

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