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Molecular analysis of <jats:italic>SPINK5<\/jats:italic> identified a novel mutation (c.1530CA). Our case report also verifies and supports the safety and efficacy of subcutaneous immunoglobulin substitution in chronic generalized skin disorders associated with primary immunodeficiencies such as Netherton syndrome.<\/jats:p>","DOI":"10.1111\/pde.14318","type":"journal-article","created":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T19:51:15Z","timestamp":1596829875000},"page":"1202-1204","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A novel <i>SPINK5<\/i> mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome"],"prefix":"10.1111","volume":"37","author":[{"given":"Maria","family":"Zelieskova","sequence":"first","affiliation":[{"name":"Department of Paediatrics Centre for Primary Immunodeficiencies Jessenius Faculty of Medicine of Comenius University in Bratislava University Hospital in Martin  Martin Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0486-0123","authenticated-orcid":false,"given":"Peter","family":"Banovcin","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centre for Primary Immunodeficiencies Jessenius Faculty of Medicine of Comenius University in Bratislava University Hospital in Martin  Martin Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marek","family":"Kozar","sequence":"additional","affiliation":[{"name":"Department of Neonatology Jessenius Faculty of Medicine of Comenius University in Bratislava University Hospital in Martin  Martin Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Kozarova","sequence":"additional","affiliation":[{"name":"Department of Dermatovenerology Jessenius Faculty of Medicine of Comenius University in Bratislava University Hospital in Martin  Martin Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuzana","family":"Nudzajova","sequence":"additional","affiliation":[{"name":"Neonatologic and Pediatrics' Ward Hospital of Kysuce  Cadca Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7976-2523","authenticated-orcid":false,"given":"Milos","family":"Jesenak","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centre for Primary Immunodeficiencies Jessenius Faculty of Medicine of Comenius University in Bratislava University Hospital in Martin  Martin Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12076"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40291-016-0243-y"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.22"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.06.009"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0956-6"},{"issue":"2","key":"e_1_2_5_7_1","first-page":"143","article-title":"The positive effect of subcutaneous immunoglobulins in severe atopic eczema in infancy associated with hypogammaglobulinemia","volume":"17","author":"Kayserova J","year":"2015","journal-title":"Alergie"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.14318","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14318","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14318","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T19:40:00Z","timestamp":1693338000000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,7]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1111\/pde.14318"],"URL":"https:\/\/doi.org\/10.1111\/pde.14318","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2020,8,7]]},"assertion":[{"value":"2020-08-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}