Introduction to Netherton Syndrome
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Netherton Syndrome sentence examples within rare autosomal recessive
Netherton syndrome (NS; OMIM #256500) is a rare autosomal recessive disorder caused by loss-of-function mutations in SPINK5 gene encoding lymphoepithelial Kazal-type-related inhibitor (LEKTI), and characterized by triad of linear circumflex ichthyosis, trichorrhexis invaginata (bamboo hair), and atopic predisposition with high serum IgE levels.
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Netherton syndrome (NS) is a rare, autosomal recessive hereditary skin disease caused by mutations in SPINK5 gene, characterized with severe skin barrier damage.
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Netherton Syndrome sentence examples within congenital ichthyosiform erythroderma
Netherton syndrome (NS) is a genetic, multisystemic disease classically distinguished by a triad of clinical manifestations: congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation.
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Dysregulation of proteolytic enzymes has huge impact on epidermal homeostasis, which can result in severe pathological conditions such as fibrosis or Netherton syndrome.
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Netherton syndrome (NS) is an autosomal recessive disorder due to mutations in the SPINK5 gene.
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Netherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect, bacterial skin infections and allergic sensitization in early childhood.
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Netherton syndrome is a genetic condition affecting about five people per million.
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4 ng/ml), Netherton syndrome (n = 7; 10.
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, Menkes disease, Björnstad syndrome, Netherton syndrome, and Bazex-Dupré-Christol syndrome).
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Considering that the treatment of patients with genetic cutaneous disorders, such as other subtypes of epidermolysis bullosa, pachyonychia congenita, ichthyosis and Netherton syndrome, remains challenging, the success of HPAEs in RDEB treatment indicates that the development of viable polymeric gene delivery vectors could potentially expedite the translation of gene therapy for these diseases from bench to bedside.
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Netherton syndrome (NS) is a rare genodermatosis with an autosomal recessive pattern of inheritance caused by pathogenic variants in the SPINK5 gene.
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Among them are skin diseases, such as prurigo nodularis, nummular eczema, allergic contact dermatitis, chronic hand eczema, spontaneous chronic urticaria, bullous pemphigoid, alopecia areata, and Netherton syndrome, among other several cutaneous diseases.
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Netherton syndrome (NS) is a multi-domain genodermatoses with hair, skin, and immunological abnormalities caused by a monogenic serine protease inhibitor of Kazal type 5 mutation.
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Due to the lack of genetic routine testing, children with recalcitrant erythroderma and otitis, along with hair shaft abnormalities, need to be evaluated for Netherton syndrome.
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We present a patient with Netherton syndrome and severe skin manifestations treated with infliximab.
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Epidermal application of the ABP-inhibitor on Spink5-/-Klk5-/- mice, a Netherton syndrome model, reversed disease hallmarks, providing preclinical proof-of-concept for using ABPs as theranostics.
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BACKGROUND
Netherton syndrome (NS) is a rare recessive skin disorder caused by loss-of-function mutations in SPINK5 encoding the protease inhibitor LEKTI.
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In recent years, gene therapy has been attempted for a variety of skin diseases, such as genodermatoses (including epidermolysis bullosa and Netherton syndrome), cutaneous lymphoma, and malignant melanoma.
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Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency which is characterized by substantial skin barrier defects and is often misdiagnosed as severe atopic dermatitis or Hyper IgE syndrome.
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Netherton syndrome (NS) is an autosomal recessive ichthyosis with a broad range of extracutaneous manifestations, including faltering growth, rendering it a complex multisystem disease.
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This is best exemplified in Netherton Syndrome (NS), a severe genetic skin condition caused by loss-of-function mutations in SPINK5 encoding LEKTI, a serine protease inhibitor which regulates kallikrein-related peptidase (KLK) 5, 7 and 14 activities.
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Trichorrhexis invaginata and ichthyosiform erythroderma are pathognomic for Netherton Syndrome.
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Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations in SPINK5, resulting in aberrant LEKTI expression.
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