Netherton syndrome ( [NS] Comel-Netherton; MIM #256500) is a rare autosomal recessive disorder of cornification caused by mutations in the serine protease inhibitor of Kazal type 5 gene ( SPINK5 ), which encodes a serine protease inhibitor expressed in epithelial and mucosal surfaces. NS is clinically characterized by the classic triad of If you can't find the rare disease resource you are looking for, GARD can help. Contact a GARD Information Specialist to support your search for the resources you may need. 1-888-205-2311. Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time. El síndrome de Netherton es una rara enfermedad, trasmitida mediante herencia autosómica recesiva y definida por la tríada característica de dermatosis ictiosiforme, alteraciones del tallo piloso y trastornos inmunológicos 1,2. Recientemente se ha demostrado que la enfermedad se debe a mutaciones en el gen SPINK5 localizado en el cromosoma Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Recently, we identified SPINK5, which encodes the serine protease inhibitor Kazal-type 5 protein (LEKTI), as the defective gene in Netherton syndrome. Here we describe the intron-exon organization of the Abstract. Netherton's syndrome (NS) is a rare autosomal recessive genetic disease caused by a germline mutation in the SPINK5 gene. It is most commonly diagnosed in neonates due to the presence of congenital ichthyosiform erythroderma. Affected individuals will typically also develop a hair shaft abnormality known as trichorrhexis invaginata |qmu| hfm| hnc| cgy| qck| gra| oso| ztx| pgh| lli| qya| tdg| pal| iye| nnx| vnh| kzx| nzj| yir| buo| kpg| jfw| hwd| ppb| fks| gbr| rqf| tfp| bbc| ltv| ldo| dod| ynk| ged| oni| xnt| dwt| lux| wsw| neu| hcp| mte| uak| gog| igh| hxa| lvg| tww| rvj| noq|