{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:25:56Z","timestamp":1747149956557,"version":"3.40.5"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,10,20]],"date-time":"2024-10-20T00:00:00Z","timestamp":1729382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JPGN rep."],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Eosinophilic esophagitis (EoE) is an immunoinflammatory disease of the esophagus attributable to a complex interaction between genetic and environmental factors. While several genetic risk variants have been linked with EoE, we report a novel association between B\u2010cell lymphoma\/leukemia 11B genetic mutation in a child with dysmorphic facies, developmental delays, atopic comorbidities, and difficult\u2010to\u2010treat EoE. After a prolonged course of EoE and multiple esophagogastroduodenoscopies with biopsies, this patient achieved clinical and histologic remission on a combination of swallowed topical steroids and high\u2010dose proton pump inhibitor (PPI) therapy. However, her EoE relapsed when we attempted to wean her off PPI, and it was finally controlled after adding PPI back to her regimen. This report underscores the importance of genetic testing in patients with unusual clinical features and difficult\u2010to\u2010treat EoE. Relevant to real\u2010world clinical practice, this case also raises the question of the treatment goals in children with EoE and underlying genetic mutation(s).<\/jats:p>","DOI":"10.1002\/jpr3.12139","type":"journal-article","created":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T06:33:58Z","timestamp":1729492438000},"page":"525-527","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel variant BCL11B mutation in a pediatric patient with difficult\u2010to\u2010treat eosinophilic esophagitis"],"prefix":"10.1002","volume":"5","author":[{"given":"Nikita Lalchandani","family":"Day","sequence":"first","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology, and Nutrition Vanderbilt University Medical Center Nashville Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren P.","family":"Carlson","sequence":"additional","affiliation":[{"name":"Division of Allergy, Immunology, and Pulmonary Medicine Vanderbilt University Medical Center Nashville Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew A.","family":"Buendia","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology, and Nutrition Vanderbilt University Medical Center Nashville Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9613-1707","authenticated-orcid":false,"given":"Girish","family":"Hiremath","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology, and Nutrition Vanderbilt University Medical Center Nashville Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1502863"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/1654543"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2019.11.013"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2021.08.018"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-065X.2010.00953.x"},{"key":"e_1_2_6_7_1","unstructured":"Online Mendelian Inheritance in Man OMIM\u00ae. Johns Hopkins University Baltimore MD MIM Number: 606558 March 14 2022.https:\/\/omim.org\/"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2011.02.040"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy173"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.2217\/epi-2018-0132"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41590-018-0238-4"}],"container-title":["JPGN Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpr3.12139","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T12:28:33Z","timestamp":1732710513000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jpr3.12139"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,20]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/jpr3.12139"],"URL":"https:\/\/doi.org\/10.1002\/jpr3.12139","archive":["Portico"],"relation":{},"ISSN":["2691-171X","2691-171X"],"issn-type":[{"type":"print","value":"2691-171X"},{"type":"electronic","value":"2691-171X"}],"subject":[],"published":{"date-parts":[[2024,10,20]]},"assertion":[{"value":"2024-05-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}