Netherton syndrome: skin inflammation and allergy by loss of protease inhibition

The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis

(2012) P. Fortugno et al.   HUMAN MOLECULAR GENETICS

The identification of a new role for LEKTI in the skin: The use of protein ‘bait’ arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome

(2012) Kate Bennett et al.   Journal of Proteomics

Proteolytic Activation Cascade of the Netherton Syndrome–Defective Protein, LEKTI, in the Epidermis: Implications for Skin Homeostasis

(2011) Paola Fortugno et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

When Activity Requires Breaking Up: LEKTI Proteolytic Activation Cascade for Specific Proteinase Inhibition

(2011) Laetitia Furio et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Infliximab Infusions for Netherton Syndrome: Sustained Clinical Improvement Correlates with a Reduction of Thymic Stromal Lymphopoietin Levels in the Skin

(2011) Lionel Fontao et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations

(2011) Matthieu Lacroix et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Surgical management of a giant condyloma of Buschke-Löwenstein in a patient with Netherton syndrome using the pedicled anterolateral thigh flap — a case report

(2011) Adrienne L.K. Li et al.   Journal of Plastic Reconstructive and Aesthetic Surgery

Association of SPINK5 gene polymorphisms with atopic dermatitis in Northeast China

(2011) L.P. Zhao et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

L’élastase 2, une nouvelle protéase épidermique impliquée dans l’établissement de la barrière cutanée

(2011) Chrystelle Bonnart et al.   M S-MEDECINE SCIENCES

A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report

(2011) Maria G. Alpigiani et al.   PEDIATRIC DERMATOLOGY

The Safety and Efficacy of Pimecrolimus, 1%, Cream for the Treatment of Netherton Syndrome

(2010) Albert C. Yan et al.   ARCHIVES OF DERMATOLOGY

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

(2010) K. Fong et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Isolation of SPINK6 in Human Skin

(2010) Ulf Meyer-Hoffert et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing

(2010) Chrystelle Bonnart et al.   JOURNAL OF CLINICAL INVESTIGATION

rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients

(2010) Daniela Roedl et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Par2 Inactivation Inhibits Early Production of TSLP, but Not Cutaneous Inflammation, in Netherton Syndrome Adult Mouse Model

(2010) Anaïs Briot et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

New Role for LEKTI in Skin Barrier Formation: Label-Free Quantitative Proteomic Identification of Caspase 14 as a Novel Target for the Protease Inhibitor LEKTI

(2010) Kate Bennett et al.   JOURNAL OF PROTEOME RESEARCH

Ex-vivo Gene Therapy Restores LEKTI Activity and Corrects the Architecture of Netherton Syndrome-derived Skin Grafts

(2010) Wei-Li Di et al.   MOLECULAR THERAPY

Loss of Matriptase Suppression Underlies Spint1 Mutation-Associated Ichthyosis and Postnatal Lethality

(2009) Roman Szabo et al.   AMERICAN JOURNAL OF PATHOLOGY

Abnormal skin barrier in the etiopathogenesis of atopic dermatitis

(2009) Peter M Elias et al.   Current Opinion in Allergy and Clinical Immunology

Comèl-Netherton syndrome defined as primary immunodeficiency

(2009) Ellen D. Renner et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Kallikrein 5 induces atopic dermatitis–like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome

(2009) Anaïs Briot et al.   JOURNAL OF EXPERIMENTAL MEDICINE

‘Matchstick’ eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome

(2009) E Goujon et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Identification of Lympho-Epithelial Kazal-Type Inhibitor 2 in Human Skin as a Kallikrein-Related Peptidase 5-Specific Protease Inhibitor

(2009) Ulf Meyer-Hoffert et al.   PLoS One

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

(2008) Stephan Weidinger et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

An Infant with Netherton Syndrome and Persistent Pulmonary Hypertension Requiring Extracorporeal Membrane Oxygenation

(2008) Cathy A. Macknet et al.   PEDIATRIC DERMATOLOGY

Hypothyroidism in Netherton Syndrome

(2008) BEN ZION GARTY et al.   PEDIATRIC DERMATOLOGY