{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T23:53:13Z","timestamp":1780530793568,"version":"3.54.1"},"reference-count":4,"publisher":"Scientific Scholar","content-domain":{"domain":["indianjnephrol.org"],"crossmark-restriction":true},"short-container-title":["Indian J Nephrol"],"abstract":"<jats:p>The cytosolic capping protein, Arp2\/3 and myosin-I linker protein 2 or CARMIL2 plays an important role in T\/B\/NK cell function. Biallelic disease causing variants in CARMIL2 are known to cause immunodeficiency 58. We report a 13-year-old girl with recurrent infections, dermatitis and nephrotic syndrome since childhood. Her renal biopsy was suggestive of membranous nephropathy. Exome sequencing showed a homozygous novel stopgain variant, c.520C&gt;T in CARMIL2 (NM_001013838.3). We expand the phenotypic spectrum of CARMIL2 related immunodeficiency to include membranous nephropathy secondary to probable immune dysregulation.<\/jats:p>","DOI":"10.25259\/ijn_542_23","type":"journal-article","created":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T09:25:10Z","timestamp":1718616310000},"page":"667-669","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Secondary Membranous Nephropathy and Immunodeficiency due to a Novel Biallelic Variant in <i>CARMIL2<\/i>"],"prefix":"10.25259","volume":"34","author":[{"given":"Lakshmi Priya","family":"Rao","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vishaka","family":"Kothiwale","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Periyasamy","family":"Radhakrishnan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dharshan","family":"Rangaswamy","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anju","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivekananda","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","published-online":{"date-parts":[[2024,6,17]]},"reference":[{"key":"10.25259\/ijn_542_23\/ref-1","doi-asserted-by":"publisher","first-page":"5945","DOI":"10.1038\/s41598-021-85399-9","article-title":"Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease","volume":"11","author":"Bosa","year":"2021","journal-title":"Sci Rep"},{"key":"10.25259\/ijn_542_23\/ref-2","doi-asserted-by":"publisher","first-page":"e20220275","DOI":"10.1084\/jem.20220275","article-title":"Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency","volume":"220","author":"L\u00e9vy","year":"2023","journal-title":"J Exp Med"},{"key":"10.25259\/ijn_542_23\/ref-3","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.25259\/ijn_542_23\/ref-4","doi-asserted-by":"publisher","first-page":"1788","DOI":"10.1093\/ibd\/izz103","article-title":"CARMIL2 deficiency presenting as very early onset iInflammatory bowel disease","volume":"25","author":"Magg","year":"2019","journal-title":"Inflamm Bowel Dis"}],"container-title":["Indian Journal of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/indianjnephrol.org\/secondary-membranous-nephropathy-and-immunodeficiency-due-to-a-novel-biallelic-variant-in-carmil2\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/indianjnephrol.org\/secondary-membranous-nephropathy-and-immunodeficiency-due-to-a-novel-biallelic-variant-in-carmil2\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T05:34:58Z","timestamp":1730180098000},"score":1,"resource":{"primary":{"URL":"https:\/\/indianjnephrol.org\/secondary-membranous-nephropathy-and-immunodeficiency-due-to-a-novel-biallelic-variant-in-carmil2\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,17]]},"references-count":4,"alternative-id":["10.25259\/ijn_542_23"],"URL":"https:\/\/doi.org\/10.25259\/ijn_542_23","relation":{},"ISSN":["1998-3662","0971-4065"],"issn-type":[{"value":"1998-3662","type":"electronic"},{"value":"0971-4065","type":"print"}],"subject":[],"published":{"date-parts":[[2024,6,17]]},"article-number":"667"}}