Article
Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Apr 2023
Nartisa Inga, Kirsteina Rasa, Neiburga Katrina Daila, Zigure Sanita, Ozola Lota, Grantina Ineta, Micule Ieva, Murmane Daiga, Slisere Baiba, Gailite Linda, Vilne Baiba, Rots Dmitrijs, Taurina Gita, Kurjane Natalja
Abstract excerpt
OBJECTIVE: Netherton syndrome (NS) (OMIM:256500) is a very rare autosomal recessive multisystem disorder mostly affecting ectodermal derivatives (skin and hair) and immune system. It is caused by biallelic loss-of-function variants in the SPINK5 gene, encoding the protease inhibitor lymphoepithelial Kazal-type-related inhibitor (LEKTI). MATERIAL, METHODS AND RESULTS: Here, we describe NS clinical and genetic...
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