{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T13:27:36Z","timestamp":1767706056705},"reference-count":6,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,5,13]],"date-time":"2013-05-13T00:00:00Z","timestamp":1368403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A previously unreported case of transporter associated with antigen processing (<jats:styled-content style=\"fixed-case\">TAP<\/jats:styled-content>) deficiency syndrome (with no parental consanguinity) due to a homozygous <jats:italic><jats:styled-content style=\"fixed-case\">TAP<\/jats:styled-content>2<\/jats:italic> mutation is presented. Characteristic nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections led to this boy being diagnosed at 15\u00a0years old. The role of the dermatologist was crucial in making the correct diagnosis and thereby positively influencing the quality of life and life expectancy of this boy.<\/jats:p>","DOI":"10.1111\/pde.12151","type":"journal-article","created":{"date-parts":[[2013,5,13]],"date-time":"2013-05-13T07:37:03Z","timestamp":1368430623000},"source":"Crossref","is-referenced-by-count":8,"title":["Transporter Associated with Antigen Processing Deficiency Syndrome: Case Report of an Adolescent with Chronic Perforated Granulomatous Skin Lesions Due to <i><scp>TAP<\/scp>2<\/i> Mutation"],"prefix":"10.1111","volume":"30","author":[{"given":"Paschalis","family":"Konstantinou","sequence":"first","affiliation":[{"name":"Department of Dermatology and Venerology University Hospital Heraklion Crete Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Kanariou","sequence":"additional","affiliation":[{"name":"Department of Immunology\u2010Histocompatibility Specific Center and Referral Center for Primary Immunodeficiencies\u2014Pediatric Immunology Aghia Sophia Children's Hospital Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia C.","family":"Giliani","sequence":"additional","affiliation":[{"name":"A. Nocivelli, Institute for Molecular Medicine and Pediatric Clinic University of Brescia Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aikaterini","family":"Pantelidaki","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venerology University Hospital Heraklion Crete Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Athanasios","family":"Kokolakis","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venerology University Hospital Heraklion Crete Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Androniki","family":"Tosca","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venerology University Hospital Heraklion Crete Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,5,13]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.20560"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI5687"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2000.01264.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-2478(97)00072-2"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hci112"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.23675"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12151","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12151","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,30]],"date-time":"2023-09-30T00:22:00Z","timestamp":1696033320000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,13]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["10.1111\/pde.12151"],"URL":"https:\/\/doi.org\/10.1111\/pde.12151","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,13]]}}}