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Here we present a 10\u2010year\u2010old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA). The patient presented for genetics evaluation with bilateral sensorineural hearing loss, oligoarticular JIA, and a renal cyst. Trio\u2010based exome sequencing and chromosome microarray analysis revealed a pathogenic heterozygous ~1.45\u2009Mb deletion that included the entire\n                    <jats:italic>GATA3<\/jats:italic>\n                    gene, consistent with a diagnosis of HDR syndrome.\n                    <jats:italic>GATA3<\/jats:italic>\n                    is a risk locus associated with autoimmune disease, including rheumatoid arthritis; however, the link between protein\u2010coding variants in\n                    <jats:italic>GATA3<\/jats:italic>\n                    and autoimmune disease has not been well established. Previously, a single patient with HDR syndrome and psoriatic JIA was identified as having a frameshift variant in the\n                    <jats:italic>GATA3<\/jats:italic>\n                    gene. These reports highlight the potential for increased susceptibility to early\u2010onset autoimmune arthritis in HDR syndrome, expanding its phenotypic spectrum. Further studies are needed to investigate the role of pathogenic variants in the\n                    <jats:italic>GATA3<\/jats:italic>\n                    gene in the pathogenesis of JIA and other autoimmune diseases.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64299","type":"journal-article","created":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T10:47:12Z","timestamp":1762339632000},"page":"733-737","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>GATA3<\/i>\n                    <\/scp>\n                    Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (\n                    <scp>HDR<\/scp>\n                    ) Syndrome"],"prefix":"10.1002","volume":"200","author":[{"given":"Lauren N.","family":"Meiss","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda V.","family":"Karam","sequence":"additional","affiliation":[{"name":"Division of Allergy, Immunology and Rheumatology, Department of Pediatrics Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Shalen","sequence":"additional","affiliation":[{"name":"Division of Allergy, Immunology and Rheumatology, Department of Pediatrics Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David E.","family":"Tunkel","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Belina Y.","family":"Yi","sequence":"additional","affiliation":[{"name":"Division of Allergy, Immunology and Rheumatology, Department of Pediatrics Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelsey S.","family":"Guthrie","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily M.","family":"Kudalkar","sequence":"additional","affiliation":[{"name":"Ambry Genetics  Aliso Viejo California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1625-2598","authenticated-orcid":false,"given":"Anna E.","family":"Patrick","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0574-4928","authenticated-orcid":false,"given":"Sonja A.","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,5]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2018.13103"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl454"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.3899\/jrheum.130302"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.imbio.2022.152281"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2024.119893"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38693"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.2174\/156652408785160952"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11596"},{"key":"e_1_2_11_10_1","first-page":"S4","article-title":"The Central Role of T Cells in Rheumatoid Arthritis","volume":"25","author":"Cope A. 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