{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:56:07Z","timestamp":1790744167868,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T00:00:00Z","timestamp":1689033600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Monogenic causes are increasingly being recognized in patients with lupus, especially in early\u2010onset disease. We herein report a boy with a novel mutation in the DNase 2 (<jats:italic>DNASE2<\/jats:italic>) gene presenting with monogenic lupus. A 6\u2010year\u2010old boy with a global developmental delay with microcephaly presented with chronic febrile illness with anemia, rash, polyarthritis, renal involvement, and hepatosplenomegaly. Laboratory investigations revealed positive antinuclear antibody, high anti\u2010dsDNA antibody titers, hypocomplementemia, hypergammaglobulinemia, nephrotic range proteinuria, and diffuse proliferative glomerulonephritis. Magnetic resonance imaging of brain showed altered signal intensity in subcortical white matter in bilateral fronto\u2010parieto\u2010temporal lobes. Targeted next\u2010generation sequencing revealed a novel pathogenic variant in <jats:italic>DNASE2<\/jats:italic>. He was treated with oral prednisolone, mycophenolate mofetil, cyclosporine, and hydroxychloroquine and is doing well on follow up. <jats:italic>DNASE2<\/jats:italic> deficiency has been reported as a rare genetic cause of monogenic lupus. <jats:italic>DNASE2<\/jats:italic> deficiency should be suspected in patients with early\u2010onset lupus with polyarthritis, erythematous rash, and neurological involvement.<\/jats:p>","DOI":"10.1111\/1756-185x.14826","type":"journal-article","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T09:29:58Z","timestamp":1689067798000},"page":"2599-2602","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A young boy with rash, arthritis, and developmental delay: Monogenic lupus due to <i>DNASE2<\/i> gene defect"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2016-3272","authenticated-orcid":false,"given":"Suprit","family":"Basu","sequence":"first","affiliation":[{"name":"Pediatric Allergy Immunology Unit, Department of Pediatrics Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Archan","family":"Sil","sequence":"additional","affiliation":[{"name":"Pediatric Allergy Immunology Unit, Department of Pediatrics Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7954-0661","authenticated-orcid":false,"given":"Ankur Kumar","family":"Jindal","sequence":"additional","affiliation":[{"name":"Pediatric Allergy Immunology Unit, Department of Pediatrics Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Tyagi","sequence":"additional","affiliation":[{"name":"Pediatric Allergy Immunology Unit, Department of Pediatrics Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed Yaser","family":"Arafath","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis and Imaging Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sameer","family":"Vyas","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis and Imaging Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Rawat","sequence":"additional","affiliation":[{"name":"Pediatric Allergy Immunology Unit, Department of Pediatrics Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,11]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2008.02.002"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/09612033221076733"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-01932-3"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1089\/dna.2007.0691"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.292.5521.1546"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2003.08.022"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/eji.201040829"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni1146"}],"container-title":["International Journal of Rheumatic 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