Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1600
Abstract: Netherton syndrome (NS) is an autosomal recessive disorder due to mutations in the SPINK5 gene. Here, we report the first case of NS caused by a large genomic deletion. read more here.
Keywords: netherton syndrome; genomic deletion; syndrome caused; mutation ... See more keywords
Generation and clinical application of gene modified autologous epidermal sheets in Netherton syndrome - lessons learned from a phase 1 trial.
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DOI: 10.1089/hum.2019.049
Abstract: Netherton Syndrome (NS) is a rare autosomal recessive skin disorder caused by mutations in SPINK5. It is a debilitating condition with notable mortality in the early years of life. There is no curative treatment. We… read more here.
Keywords: gene modified; application gene; netherton syndrome; epidermal sheets ... See more keywords
The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations *
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DOI: 10.1111/bjd.19265
Abstract: Netherton syndrome (NS) is a rare disease caused by SPINK5 mutations, featuring variable skin and hair involvement and, in many cases, allergic manifestations with a risk of lethality, particularly in infants. The clinical management of… read more here.
Keywords: netherton syndrome; syndrome; management series; challenging management ... See more keywords
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course
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DOI: 10.1111/ijd.13730
Abstract: Netherton syndrome (NS) (OMIM no. 256500) is a rare autosomal recessive disorder. It may manifest at birth with the classic triad of congenital ichthyosis, hair shaft abnormalities, and atopic diathesis. Netherton syndrome is caused by… read more here.
Keywords: intestinal atresia; fatal course; case; atresia novel ... See more keywords
Netherton syndrome with chromosome 16p11.2 microduplication in a Chinese infant
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DOI: 10.1111/ijd.16495
Abstract: References 1 Ribero S, Glass D, Bataille V. Genetic epidemiology of melanoma. Eur J Dermatol. 2016;26(4):335–9. 2 Loney T, Paulo MS, Modenese A, Gobba F, Tenkate T, Whiteman DC, et al. Global evidence on occupational… read more here.
Keywords: netherton syndrome; dermatol; syndrome chromosome; chromosome 16p11 ... See more keywords
Characteristics of children with Netherton syndrome: a review of 21 patients
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.17226
Abstract: Netherton syndrome (NS) is an autosomal recessive ichthyosis with a broad range of extracutaneous manifestations, including faltering growth, rendering it a complex multisystem disease. Exploring longitudinal data on complications/comorbidities holds potential to reduce morbidity and… read more here.
Keywords: characteristics children; syndrome review; dermatology; review patients ... See more keywords
Prevalence of and risk factors for nutritional deficiency and food allergy in a cohort of 21 patients with Netherton syndrome
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DOI: 10.1111/pai.13914
Abstract: Netherton syndrome (NS; OMIM: 256500) is a rare autosomal recessively inherited disease due to SPINK5 mutations. Hair and inflammatory skin involvement are variable along with allergies. Morbidity and mortality are high, particularly in infancy. A… read more here.
Keywords: netherton syndrome; prevalence risk; factors nutritional; nutritional deficiency ... See more keywords
Infliximab therapy in an infant with Netherton Syndrome.
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DOI: 10.1111/pde.14590
Abstract: We present a patient with Netherton syndrome and severe skin manifestations treated with infliximab. By 6 months of age, the child had intractable pruritus, scaling, dry skin, and generalized eczematous lesions resistant to conventional therapies for… read more here.
Keywords: therapy infant; skin; infliximab therapy; netherton syndrome ... See more keywords
Dual antibody inhibition of KLK5 and KLK7 for Netherton syndrome and atopic dermatitis
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DOI: 10.1126/scitranslmed.abp9159
Abstract: The epidermis is a barrier that prevents water loss while keeping harmful substances from penetrating the host. The impermeable cornified layer of the stratum corneum is maintained by balancing continuous turnover driven by epidermal basal… read more here.
Keywords: netherton syndrome; atopic dermatitis; klk5; antibody ... See more keywords
Establishment of a mouse model of Netherton syndrome based on CRISPR/Cas9 technology
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DOI: 10.1684/ejd.2022.4287
Abstract: Netherton syndrome is a rare but severe autosomal recessive disorder with dominant impaired skin barrier function, caused by mutations in the SPINK5 (serine protease inhibitor Kazal-type 5) gene, which encodes LEKTI (lymphoepithelial Kazal-type-related inhibitor). To… read more here.
Keywords: netherton syndrome; crispr cas9; mouse; cas9 ... See more keywords
A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient
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DOI: 10.18295/squmj.4.2021.047
Abstract: Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by substantial skin barrier defects and is often misdiagnosed as severe atopic dermatitis or hyper-immunoglobulin E syndrome. Although more than 80 NS-associated pathogenic… read more here.
Keywords: patient; netherton syndrome; mutation; spink5 gene ... See more keywords