{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:54:24Z","timestamp":1772160864667,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,4,11]],"date-time":"2023-04-11T00:00:00Z","timestamp":1681171200000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Netherton syndrome (NS) (OMIM:256500) is a very rare autosomal recessive multisystem disorder mostly affecting ectodermal derivatives (skin and hair) and immune system. It is caused by biallelic loss\u2010of\u2010function variants in the\n                      <jats:italic>SPINK5<\/jats:italic>\n                      gene, encoding the protease inhibitor lymphoepithelial Kazal\u2010type\u2010related inhibitor (LEKTI).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Material, Methods and Results<\/jats:title>\n                    <jats:p>\n                      Here, we describe NS clinical and genetic features of homogenous patient group: 9 individuals from 7 families with similar ethnic background and who have the same\n                      <jats:italic>SPINK5<\/jats:italic>\n                      variant (NM_006846.4: c.1048C\u2009&gt;\u2009T, p.(Arg350*)) in homozygous or compound heterozygous states, suggesting that it is a common founder variant in Latvian population. Indeed, we were able to show that the variant is common in general Latvian population, and it shares the same haplotype among the NS individual. It is estimated that the variant arose &gt;1000\u2009years ago. Clinically, all nine patients exhibited typical NS skin changes (scaly erythroderma,\n                      <jats:italic>ichthyosis linearis circumflexa<\/jats:italic>\n                      , itchy skin), except for one patient who has a different skin manifestation\u2014epidermodysplasia. Additionally, we show that developmental delay, previously underrecognized in NS, is a common feature among these patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study shows that the phenotype of NS individuals with the same genotype is highly homogeneous.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/pai.13937","type":"journal-article","created":{"date-parts":[[2023,4,12]],"date-time":"2023-04-12T00:25:21Z","timestamp":1681259121000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and genetic characterization of Netherton syndrome due to\n                    <scp>\n                      <i>SPINK5<\/i>\n                    <\/scp>\n                    founder variant in Latvian population"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2012-4732","authenticated-orcid":false,"given":"Inga","family":"Nartisa","sequence":"first","affiliation":[{"name":"Riga Stradins University  Riga Latvia"},{"name":"Children's Clinical University Hospital  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rasa","family":"Kirsteina","sequence":"additional","affiliation":[{"name":"Clinic for Medical Genetics and Prenatal Diagnosis Children's Clinical University Hospital  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrina Daila","family":"Neiburga","sequence":"additional","affiliation":[{"name":"Riga Stradins University  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanita","family":"Zigure","sequence":"additional","affiliation":[{"name":"Riga Stradins University  Riga Latvia"},{"name":"Children's Clinical University Hospital  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lota","family":"Ozola","sequence":"additional","affiliation":[{"name":"Children's Clinical University Hospital  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ineta","family":"Grantina","sequence":"additional","affiliation":[{"name":"Children's Clinical University Hospital  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ieva","family":"Micule","sequence":"additional","affiliation":[{"name":"Clinic for Medical Genetics and Prenatal Diagnosis Children's Clinical University Hospital  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daiga","family":"Murmane","sequence":"additional","affiliation":[{"name":"Clinic for Medical Genetics and Prenatal Diagnosis Children's Clinical University Hospital  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baiba","family":"Slisere","sequence":"additional","affiliation":[{"name":"Riga Stradins University  Riga Latvia"},{"name":"Pauls Stradins Clinical University Hospital  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Gailite","sequence":"additional","affiliation":[{"name":"Riga Stradins University  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baiba","family":"Vilne","sequence":"additional","affiliation":[{"name":"Riga Stradins University  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitrijs","family":"Rots","sequence":"additional","affiliation":[{"name":"Riga Stradins University  Riga Latvia"},{"name":"Children's Clinical University Hospital  Riga Latvia"},{"name":"Radboudumc  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gita","family":"Taurina","sequence":"additional","affiliation":[{"name":"Clinic for Medical Genetics and Prenatal Diagnosis Children's Clinical University Hospital  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalja","family":"Kurjane","sequence":"additional","affiliation":[{"name":"Riga Stradins University  Riga Latvia"},{"name":"Clinic for Medical Genetics and Prenatal Diagnosis Children's Clinical University Hospital  Riga Latvia"},{"name":"Pauls Stradins Clinical University Hospital  Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,11]]},"reference":[{"key":"e_1_2_9_2_1","article-title":"Netherton syndrome: a case report and review of literature","volume":"10","author":"Saleem HMK","year":"2018","journal-title":"Cureus"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.06.009"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678707.2020.1857724"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-013-9875-4"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.366"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.2188\/jea.JE20170079"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.4235"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btaa1081"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.114.164616"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/1359105318790052"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.06.020"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2020.06.064"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/818961"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/all.14197"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2019.02.017"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01289-3"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2015.5827"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2001.01389.x"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40291-016-0243-y"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.01603.x"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24309"}],"container-title":["Pediatric Allergy and Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pai.13937","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T23:51:15Z","timestamp":1695599475000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pai.13937"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1111\/pai.13937"],"URL":"https:\/\/doi.org\/10.1111\/pai.13937","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/PAI.13937\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/PAI.13937\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/PAI.13937\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/PAI.13937\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/PAI.13937\/v1\/review1","asserted-by":"object"}]},"ISSN":["0905-6157","1399-3038"],"issn-type":[{"value":"0905-6157","type":"print"},{"value":"1399-3038","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4]]},"assertion":[{"value":"2022-07-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e13937"}}