{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T00:36:30Z","timestamp":1774312590346,"version":"3.50.1"},"reference-count":14,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,11,2]]},"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:p>Neonatal diabetes mellitus (NDM) is characterised by onset of persistent hyperglycaemia within the first 6\u2009months of life. NDM is frequently caused by a mutation in a single gene affecting pancreatic beta cell function. We report an infant, born to a non-consanguineous couple, who presented with osmotic symptoms and diabetic ketoacidosis. The genetic analysis showed a mutation in LRBA (lipopolysaccharide-responsive and beige-like anchor protein) gene. We highlight the importance of considering genetic analysis in every infant with NDM, to understand the nature of genetic mutation, associated comorbidities, response to glibenclamide and future prognosis.<\/jats:p>","DOI":"10.1136\/bcr-2022-250243","type":"journal-article","created":{"date-parts":[[2022,11,24]],"date-time":"2022-11-24T12:52:00Z","timestamp":1669294320000},"page":"e250243","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Neonatal diabetes with a rare LRBA mutation"],"prefix":"10.1136","volume":"15","author":[{"given":"Arti","family":"Yadav","sequence":"first","affiliation":[{"name":"Endocrinology and Diabetes Unit, Dpeartment of Paediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0039-2142","authenticated-orcid":false,"given":"Rakesh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Endocrinology and Diabetes Unit, Dpeartment of Paediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amit","family":"Rawat","sequence":"additional","affiliation":[{"name":"Pediatric Allergy and Immunology Unit, PGIMER, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radha","family":"Venkatesan","sequence":"additional","affiliation":[{"name":"Molecular Genetics, Madras Diabetes Research Foundation, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,11,24]]},"reference":[{"key":"2025082708503964000_15.11.e250243.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5448.2008.00433.x"},{"key":"2025082708503964000_15.11.e250243.2","doi-asserted-by":"publisher","DOI":"10.1159\/000354219"},{"key":"2025082708503964000_15.11.e250243.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2017.10.006"},{"key":"2025082708503964000_15.11.e250243.4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-2494"},{"key":"2025082708503964000_15.11.e250243.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2009.04.010"},{"key":"2025082708503964000_15.11.e250243.6","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.166.7.4586"},{"key":"2025082708503964000_15.11.e250243.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.015"},{"key":"2025082708503964000_15.11.e250243.8","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-015-0224-7"},{"key":"2025082708503964000_15.11.e250243.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.09.025"},{"key":"2025082708503964000_15.11.e250243.10","doi-asserted-by":"crossref","first-page":"2379","DOI":"10.1016\/j.jaip.2019.04.011","article-title":"Clinical, immunologic, and molecular spectrum of patients with LPS-responsive Beige-Like anchor protein deficiency: a systematic review","volume":"7","author":"Habibi","year":"2019","journal-title":"J Allergy Clin Immunol Pract"},{"key":"2025082708503964000_15.11.e250243.11","doi-asserted-by":"publisher","DOI":"10.1089\/dia.2016.0350"},{"key":"2025082708503964000_15.11.e250243.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2014.10.019"},{"key":"2025082708503964000_15.11.e250243.13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3382"},{"key":"2025082708503964000_15.11.e250243.14","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaa1663"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-250243","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:50:47Z","timestamp":1756309847000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-250243"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":14,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,11,24]]},"published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1136\/bcr-2022-250243"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-250243","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11]]}}}