Immune cell phenotype and functional defects in Netherton syndrome-Reference-Cited by-同舟云学术

Immune cell phenotype and functional defects in Netherton syndrome

Published:2018-11-26 Issue:1 Volume:13 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Eränkö Elina,Ilander Mette,Tuomiranta Mirja,Mäkitie Antti,Lassila Tea,Kreutzman Anna,Klemetti Paula,Mustjoki Satu,Hannula-Jouppi Katariina,Ranki Annamari

Funder

Sigrid Jusélius Foundation

Allergy Research Foundation

Helsingin ja Uudenmaan Sairaanhoitopiiri

Finska Läkaresällskapet

Suomen Ihotautilääkäriyhdistys

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-018-0956-6.pdf

Reference26 articles.

1. Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet. 2000;25:141–2. https://doi.org/10.1038/75977 .

2. Stryk S, Siegfried EC, Knutsen AP. Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome. Pediatr Dermatol. 1999;16:19–22.

3. Hannula-Jouppi K, Laasanen S-L, Ilander M, Furio L, Tuomiranta M, Marttila R, et al. Intrafamily and interfamilial phenotype variation and immature immunity in patients with Netherton syndrome and Finnish SPINK5 founder mutation. JAMA Dermatol. 2016;152:435–42. https://doi.org/10.1001/jamadermatol.2015.5827 .

4. Hovnanian A. Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res. 2013;351:289–300. https://doi.org/10.1007/s00441-013-1558-1 .

5. Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, et al. Comèl-Netherton syndrome defined as primary immunodeficiency. J Allergy Clin Immunol. 2009;124:536–43. https://doi.org/10.1016/j.jaci.2009.06.009 .

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Netherton syndrome—A therapeutic challenge in childhood;Clinical Case Reports;2024-04

2. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

3. Features of Cell-Mediated Immunity in Children with Congenital Ichthyosis and Their Role in the Pathogenetic Management;Current Pediatrics;2023-11-05

4. Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population;Pediatric Allergy and Immunology;2023-04

5. Intravenous immunoglobulin for the management of Netherton syndrome;Indian Journal of Dermatology, Venereology and Leprology;2023-04-01