{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T10:06:28Z","timestamp":1760609188538,"version":"3.40.5"},"reference-count":12,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,8,27]],"date-time":"2019-08-27T00:00:00Z","timestamp":1566864000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Grant-in-Aid for Scientific Research (C) from the Ministry of Education, Culture, Sports, Science and Technology of Japan"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Prominent dermal infiltration by Langerhans cells (<jats:styled-content style=\"fixed-case\">LC<\/jats:styled-content>) is a rare finding in patients with Omenn syndrome (<jats:styled-content style=\"fixed-case\">OS<\/jats:styled-content>). Here, we report the case study of a 7\u2010month\u2010old boy with <jats:styled-content style=\"fixed-case\">OS<\/jats:styled-content> and with prominent dermal infiltration by <jats:styled-content style=\"fixed-case\">LC<\/jats:styled-content>, which is a rare histological manifestation of the skin. Striking erythroderma appeared in the patient 2\u00a0weeks after birth. We also noted alopecia, lymphadenopathy, hepatosplenomegaly, eosinophilia and an elevated serum immunoglobulin E level with hypogammaglobulinemia. Peripheral blood flow cytometry showed the T<jats:sup>low<\/jats:sup><jats:styled-content style=\"fixed-case\">NK<\/jats:styled-content><jats:sup>+<\/jats:sup>B<jats:sup>+<\/jats:sup> immunophenotype and genetic analysis, a novel mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>2<jats:styled-content style=\"fixed-case\">RG<\/jats:styled-content><\/jats:italic> gene (c.337_339del<jats:styled-content style=\"fixed-case\">TCT<\/jats:styled-content>, p.Ser113del). The final diagnosis was that of <jats:styled-content style=\"fixed-case\">OS<\/jats:styled-content>. He responded well to an allograft umbilical cord blood transplantation that was performed when the patient was 8\u00a0months of age. We speculate that the <jats:styled-content style=\"fixed-case\">LC<\/jats:styled-content> accumulated in the dermis will eventually migrate to the regional lymph node, then stimulate autoreactive T cells by overpresenting antigens, thus causing <jats:styled-content style=\"fixed-case\">OS<\/jats:styled-content>\u2010specific skin symptoms.<\/jats:p>","DOI":"10.1111\/1346-8138.15054","type":"journal-article","created":{"date-parts":[[2019,8,28]],"date-time":"2019-08-28T04:35:27Z","timestamp":1566966927000},"page":"1019-1023","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the <i><scp>IL<\/scp>2<scp>RG<\/scp><\/i> gene"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2349-1765","authenticated-orcid":false,"given":"Atsuko","family":"Ibusuki","sequence":"first","affiliation":[{"name":"Departments of Dermatology Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuro","family":"Nishikawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsubasa","family":"Hiraki","sequence":"additional","affiliation":[{"name":"Department of Pathology Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsubasa","family":"Okano","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Developmental Biology Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU) Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kohsuke","family":"Imai","sequence":"additional","affiliation":[{"name":"Community Pediatrics, Perinatal and Maternal Medicine Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU) Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Kanegane","sequence":"additional","affiliation":[{"name":"Department of Child Health and Development Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU) Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidenori","family":"Ohnishi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medicine Gifu University Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zenichiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medicine Gifu University Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6482-8953","authenticated-orcid":false,"given":"Kazuyasu","family":"Fujii","sequence":"additional","affiliation":[{"name":"Departments of Dermatology Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihide","family":"Tanimoto","sequence":"additional","affiliation":[{"name":"Department of Pathology Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshifumi","family":"Kawano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima 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