A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome-Reference-Cited by-同舟云学术

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

Published:2020-08-07 Issue:6 Volume:37 Page:1202-1204
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Zelieskova Maria¹,Banovcin Peter¹^ORCID,Kozar Marek²,Kozarova Andrea³,Nudzajova Zuzana⁴,Jesenak Milos¹^ORCID

Affiliation:

1. Department of Paediatrics Centre for Primary Immunodeficiencies Jessenius Faculty of Medicine of Comenius University in Bratislava University Hospital in Martin Martin Slovakia

2. Department of Neonatology Jessenius Faculty of Medicine of Comenius University in Bratislava University Hospital in Martin Martin Slovakia

3. Department of Dermatovenerology Jessenius Faculty of Medicine of Comenius University in Bratislava University Hospital in Martin Martin Slovakia

4. Neonatologic and Pediatrics' Ward Hospital of Kysuce Cadca Slovakia

Funder

Agentúra Ministerstva Školstva, Vedy, Výskumu a Športu SR

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14318

Reference6 articles.

1. Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5

2. Netherton Syndrome: A Genotype-Phenotype Review

3. A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements

4. Comèl-Netherton syndrome defined as primary immunodeficiency

5. Immune cell phenotype and functional defects in Netherton syndrome

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