Article

Netherton Syndrome -- a therapeutic challenge in childhood

2024-03-16

Abstract excerpt

Netherton syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM #256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications. It is caused by loss-of-function mutations in the SPINK5 gene, which encode a key kallikrein protease inhibitor. There are two subtypes of the syndrome that differ in clinical presentation and immune

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 48204a44-247b-5a18-995a-7150bdb92f7c
DOI: 10.22541/au.171059231.16816949/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Netherton Syndrome -- a therapeutic challenge in childhoodDOI 10.22541/au.171059231.16816949/v1Read

SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes.Semantic proximity Read

Immunological phenotype and skin modeling of Netherton syndrome.Semantic proximity Read

A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.Semantic proximity Read

Netherton syndrome: A neonatal case with respiratory insufficiency.Semantic proximity Read

Netherton Syndrome: A Genotype-Phenotype Review.Semantic proximity Read

Netherton syndrome and its multifaceted defective protein LEKTI.Semantic proximity Read

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.Semantic proximity Read

Cocktails of KLK5 Protease Inhibitors and Anti-TNFα Therapeutics: an Effective Treatment for Netherton Syndrome.Semantic proximity Read

A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.Semantic proximity Read

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.Semantic proximity Read

Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.Semantic proximity Read

[Netherton syndrome].Semantic proximity Read