{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T15:49:05Z","timestamp":1783784945750,"version":"3.55.0"},"reference-count":15,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T00:00:00Z","timestamp":1727136000000},"content-version":"vor","delay-in-days":6,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01-DK105448"],"award-info":[{"award-number":["R01-DK105448"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Autoimmune polyglandular syndrome 1 (APS1) is an autosomal recessive disorder due to biallelic pathogenic variants in the autoimmune regulator (AIRE) gene that manifests with chronic mucocutaneous candidiasis, primary hypoparathyroidism, and adrenal insufficiency. We report a 39-year-old woman with APS1 who developed partial lipodystrophy during adulthood. She presented with diaper rashes, oral thrush, and tetany during infancy due to candidiasis and hypoparathyroidism. During childhood, she developed hypothyroidism, primary adrenal insufficiency, and ovarian insufficiency.<\/jats:p>\n               <jats:p>At age 14, she received a sibling-matched allogenic bone marrow transplant due to multiple antibiotic-refractory fungal infections. At age 35, her serum triglycerides were 914 mg\/dL (10.32\u2005mmol\/L) and she had loss of subcutaneous fat from the upper and lower extremities and hips. A whole-body dual-energy x-ray absorptiometry revealed lower-extremity fat at less than the first percentile. Whole-exome sequencing on DNA extracted from saliva revealed pathogenic variants, p.Leu28Pro and p.Arg257* in AIRE but none in the known lipodystrophy genes. Phage-immunoprecipitation-sequencing revealed the presence of autoantibodies to MAGEB1, MAGEB4, and RFX6, which have been previously reported in APS1. Our case suggests that patients with APS1 may develop partial lipodystrophy due to autoantibodies against novel adipocyte-expressed proteins. A causal relationship of high levels of autoantibodies in our patient to adipose tissue\u2013expressed ODC1, NUCKS1, or FNBP1L and lipodystrophy remains uncertain.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae166","type":"journal-article","created":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T16:40:58Z","timestamp":1727196058000},"source":"Crossref","is-referenced-by-count":3,"title":["Partial Lipodystrophy Affecting the Extremities in a Young Woman With Autoimmune Polyglandular Syndrome 1"],"prefix":"10.1210","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7981-9603","authenticated-orcid":false,"given":"Shubham","family":"Agarwal","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Department of Internal Medicine, UT Southwestern Medical Center , Dallas, TX 75390-8537 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Bodansky","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, San Francisco , San Francisco, CA 94158 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Xing","sequence":"additional","affiliation":[{"name":"McDermott Center for Human Growth and Development, UT Southwestern Medical Center , Dallas, TX 75390 ,","place":["USA"]},{"name":"Lyda Hill Department of Bioinformatics, UT Southwestern Medical Center , Dallas, TX 75390 ,","place":["USA"]},{"name":"Peter O\u2019Donnell Jr. School of Public Health, UT Southwestern Medical Center , Dallas, TX 75390 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark S","family":"Anderson","sequence":"additional","affiliation":[{"name":"Diabetes Center, University of California, San Francisco , San Francisco, CA 94143 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7209-6986","authenticated-orcid":false,"given":"Abhimanyu","family":"Garg","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Internal Medicine, UT Southwestern Medical Center , Dallas, TX 75390-8537 ,","place":["USA"]},{"name":"Center for Human Nutrition, UT Southwestern Medical Center , Dallas, TX 75390 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2024,9,24]]},"reference":[{"issue":"5","key":"2024101805264092000_luae166-B1","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/nrendo.2010.40","article-title":"Autoimmune polyglandular syndromes","volume":"6","author":"Michels","year":"2010","journal-title":"Nat Rev Endocrinol"},{"issue":"4","key":"2024101805264092000_luae166-B2","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1210\/jc.2015-3722","article-title":"Progressive generalized lipodystrophy as a manifestation of autoimmune polyglandular syndrome type 1","volume":"101","author":"Sorkina","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2024101805264092000_luae166-B3","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1249\/00005768-198023000-00009","article-title":"Generalized equations for predicting body density of women","volume":"12","author":"Jackson","year":"1980","journal-title":"Med Sci Sports Exerc"},{"key":"2024101805264092000_luae166-B4","doi-asserted-by":"crossref","first-page":"e78550","DOI":"10.7554\/eLife.78550","article-title":"Autoantibody discovery across monogenic, acquired, and COVID-19-associated autoimmunity with scalable PhIP-seq","volume":"11","author":"Vazquez","year":"2022","journal-title":"eLife"},{"issue":"1","key":"2024101805264092000_luae166-B5","doi-asserted-by":"crossref","first-page":"59","DOI":"10.2337\/db21-1172","article-title":"Autoantibodies to perilipin-1 define a subset of acquired generalized lipodystrophy","volume":"72","author":"Mandel-Brehm","year":"2023","journal-title":"Diabetes"},{"key":"2024101805264092000_luae166-B6","author":"ClinVar-National Center for Biotechnology Information"},{"key":"2024101805264092000_luae166-B7","author":"ClinVar-National Center for Biotechnology Information"},{"issue":"2","key":"2024101805264092000_luae166-B8","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.thorsurg.2018.12.001","article-title":"The role of the thymus in the immune response","volume":"29","author":"Thapa","year":"2019","journal-title":"Thorac Surg Clin"},{"key":"2024101805264092000_luae166-B9","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.coi.2016.07.003","article-title":"AIRE-mutations and autoimmune disease","volume":"43","author":"Bruserud","year":"2016","journal-title":"Curr Opin Immunol"},{"issue":"3","key":"2024101805264092000_luae166-B10","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1074\/jbc.M707211200","article-title":"AIRE\u2019s CARD revealed, a new structure for central tolerance provokes transcriptional plasticity","volume":"283","author":"Ferguson","year":"2008","journal-title":"J Biol Chem"},{"issue":"4","key":"2024101805264092000_luae166-B11","first-page":"797","article-title":"Successful allogeneic bone marrow transplantation in severe chronic mucocutaneous candidiasis syndrome","volume":"18","author":"Hoh","year":"1996","journal-title":"Bone Marrow Transplant"},{"issue":"5","key":"2024101805264092000_luae166-B12","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1097\/00007890-198605000-00006","article-title":"Severe aplastic anemia associated with chronic mucocutaneous candidiasis. Immunologic and hematologic reconstitution after allogeneic bone marrow transplantation","volume":"41","author":"Deeg","year":"1986","journal-title":"Transplantation"},{"key":"2024101805264092000_luae166-B13","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.intimp.2017.05.023","article-title":"Transplantation of aire-overexpressing bone marrow-derived dendritic cells delays the onset of type 1 diabetes","volume":"49","author":"Li","year":"2017","journal-title":"Int Immunopharmacol"},{"issue":"23","key":"2024101805264092000_luae166-B14","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1056\/NEJM200106073442304","article-title":"Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation","volume":"344","author":"Baud","year":"2001","journal-title":"N Engl J Med"},{"issue":"1","key":"2024101805264092000_luae166-B15","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1097\/01.md.0000111061.69212.59","article-title":"Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature","volume":"83","author":"Misra","year":"2004","journal-title":"Medicine (Baltimore)"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/10\/luae166\/59807951\/luae166.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/10\/luae166\/59807951\/luae166.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T05:26:58Z","timestamp":1729229218000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luae166\/7772956"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,18]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,9,18]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luae166","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,10]]},"published":{"date-parts":[[2024,9,18]]},"article-number":"luae166"}}