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I. Luchsinger et al.
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T. H. Andreasen et al.
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Garima Dabas et al.
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Maria Zelieskova et al.
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Evgeniya Petrova et al.
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Kemal Ozyurt et al.
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Giuliana Onnis et al.
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Immune cell phenotype and functional defects in Netherton syndrome
Elina Eraenkoe et al.
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An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome
Alexander K. C. Leung et al.
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Constantina A. Sarri et al.
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Elena E. Perez et al.
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An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis
Amy S. Paller et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2017)
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Deirdre De Ranieri et al.
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Rayyan-a web and mobile app for systematic reviews
Mourad Ouzzani et al.
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Panida Sriaroon et al.
IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA (2015)
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
Capucine Picard et al.
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Methodology of clinical trials for rare diseases
Catrin Tudur Smith et al.
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY (2014)
Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome
Tomoko Konishi et al.
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Netherton syndrome: skin inflammation and allergy by loss of protease inhibition
Alain Hovnanian
CELL AND TISSUE RESEARCH (2013)
Care of the newborn with ichthyosis
Jonathan A. Dyer et al.
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Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome
I. Maatouk et al.
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Joel L. Gallagher et al.
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Intravenous immunoglobulins in immunodeficiencies: more than mere replacement therapy
S. V. Kaveri et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2011)
Proteolytic Activation Cascade of the Netherton Syndrome-Defective Protein, LEKTI, in the Epidermis: Implications for Skin Homeostasis
Paola Fortugno et al.
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Infliximab Infusions for Netherton Syndrome: Sustained Clinical Improvement Correlates with a Reduction of Thymic Stromal Lymphopoietin Levels in the Skin
Lionel Fontao et al.
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Albert C. Yan et al.
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Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing
Chrystelle Bonnart et al.
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Par2 Inactivation Inhibits Early Production of TSLP, but Not Cutaneous Inflammation, in Netherton Syndrome Adult Mouse Model
Anais Briot et al.
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Reddish, scaly, and itchy: how proteases and their inhibitors contribute to inflammatory skin diseases
Ulf Meyer-Hoffert
ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS (2009)
Comel-Netherton syndrome defined as primary immunodeficiency
Ellen D. Renner et al.
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Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome
Anais Briot et al.
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E. Lazaridou et al.
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Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement
David Moher et al.
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Caspase-1 activity of stratum corneum and serum interleukin-18 level are increased in patients with Netherton syndrome
N. Hosomi et al.
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LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control I desquamation through a pH-dependent interaction
Celine Deraison et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
Efficacy of various intravenous immunoglobulin therapy protocols in autoimmune and chronic inflammatory disorders
Hakan M. Gurcan et al.
ANNALS OF PHARMACOTHERAPY (2007)
A potential role for multiple tissue kallikrein serine proteases in epidermal desquamation
Carla A. Borgono et al.
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Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome
Jean-Pierre Hachem et al.
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Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome
Pascal Descargues et al.
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SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI Isoforms derived from alternative pre-mRNA processing
Alessandro Tartaglia-Polcini et al.
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hK5 and hK7, two serine proteinases abundant in human skin, are inhibited by LEKTI domain 6
T Egelrud et al.
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Inhibition of human kallikreins 5 and 7 by the serine protease inhibitor lympho-epithelial Kazal-type inhibitor (LEKTI)
NM Schechter et al.
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Pharmacokinetics and pharmacodynamics of systemically administered glucocorticoids
D Czock et al.
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Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
P Descargues et al.
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Generalized exfoliative erythroderma since birth
L El Shabrawi-Caelen et al.
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LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome
E Bitoun et al.
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Inhibition of serine proteinases plasmin, trypsin, subtilisin A, cathepsin G, and elastase by LEKTI: A kinetic analysis
K Mitsudo et al.
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Netherton syndrome:: Disease expression and spectrum of SPINK5 mutations in 21 families
E Bitoun et al.
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Clinico-immunological heterogeneity in Comel-Netherton syndrome
D Van Gysel et al.
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Neonatal and infantile erythrodermas -: A retrospective study of 51 patients
A Pruszkowski et al.
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Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
S Chavanas et al.
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Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping
S Chavanas et al.
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