{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T05:33:04Z","timestamp":1767850384657,"version":"3.49.0"},"reference-count":12,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T00:00:00Z","timestamp":1726099200000},"content-version":"unspecified","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,8,5]]},"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:p>On chromosome 10q23 is found the <jats:italic>PTEN<\/jats:italic> gene, which encodes a phosphate and tension homologue. The protein dephosphorylates phosphatidylinositol-(3,4,5)-trisphosphate at the plasma membrane to produce inorganic phosphatidylinositol-(4,5)-bisphosphate. This enzymatic activity inhibits the phosphatidylinositol-3-kinase, protein kinase B and mammalian target of the rapamycin signalling cascade. Consequently, essential cellular functions, including metabolic regulation, cellular growth, proliferation and viability, are affected. A mutation in this gene gives rise to hamartoma tumour syndrome, which exhibits a range of phenotypes, including Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome and proteus-like disease. A man in his late 20s with a PTEN tumour-like arteriovenous malformation in the right thigh was recently diagnosed with lupus nephritis. The patient\u2019s nephritic symptoms, pleural effusion, dyslipidaemia and splenomegaly demonstrate systemic lupus erythematosus (SLE) multisystem involvement. The case report identifies an association between a PTEN mutation and a new diagnosis of SLE that might have been triggered by PTEN-associated immune dysregulation.<\/jats:p>","DOI":"10.1136\/bcr-2023-258400","type":"journal-article","created":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T14:56:32Z","timestamp":1726152992000},"page":"e258400","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Severe lupus nephritis in a young adult with PTEN hamartoma tumour syndrome"],"prefix":"10.1136","volume":"17","author":[{"given":"Wiktoria","family":"Drozdz","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Kantonsspital Graub\u00fcnden, Chur, Graub\u00fcnden, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Joller","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Kantonsspital Graub\u00fcnden, Chur, Graub\u00fcnden, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philipp","family":"Grosse","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Kantonsspital Graub\u00fcnden, Chur, Graub\u00fcnden, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1668-1800","authenticated-orcid":false,"given":"Thomas","family":"Fehr","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Kantonsspital Graub\u00fcnden, Chur, Graub\u00fcnden, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,9,12]]},"reference":[{"key":"2025082707294796000_17.9.e258400.1","unstructured":"Yehia L , Eng C . PTEN Hamartoma Tumor Syndrome. 1993."},{"key":"2025082707294796000_17.9.e258400.2","unstructured":"Kumar V . Robbins and Cotran: Pathologic Basis of Disease. 8th edn. SAUNDERS Elsevier, 2010:818."},{"key":"2025082707294796000_17.9.e258400.3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000511268","article-title":"Update on Lupus Nephritis: Looking for a New Vision","volume":"145","author":"Morales","year":"2021","journal-title":"Nephron"},{"key":"2025082707294796000_17.9.e258400.4","doi-asserted-by":"crossref","first-page":"3511","DOI":"10.1007\/s10067-020-05205-1","article-title":"Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype","volume":"39","author":"Al-Mayouf","year":"2020","journal-title":"Clin Rheumatol"},{"key":"2025082707294796000_17.9.e258400.5","doi-asserted-by":"publisher","DOI":"10.1172\/JCI127949"},{"key":"2025082707294796000_17.9.e258400.6","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.it.2017.02.001","article-title":"Expanding the B Cell-Centric View of Systemic Lupus Erythematosus","volume":"38","author":"Morawski","year":"2017","journal-title":"Trends Immunol"},{"key":"2025082707294796000_17.9.e258400.7","doi-asserted-by":"publisher","DOI":"10.1126\/science.285.5436.2122"},{"key":"2025082707294796000_17.9.e258400.8","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20021101"},{"key":"2025082707294796000_17.9.e258400.9","doi-asserted-by":"crossref","unstructured":"Wu X , Ye Y , Niu J , et al . Defective PTEN regulation contributes to B cell hyperresponsiveness in systemic lupus erythematosus. Sci Transl Med 2014;6. doi:10.1126\/scitranslmed.3009131","DOI":"10.1126\/scitranslmed.3009131"},{"key":"2025082707294796000_17.9.e258400.10","unstructured":"Rheuma Schweiz Fachzeitschrift . n.d. PD Dr. med. Seeger H. Lupusnephritis."},{"key":"2025082707294796000_17.9.e258400.11","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1111\/bjd.12767","article-title":"Systemic lupus erythematosus in a patient with PTEN hamartoma tumour syndrome","volume":"170","author":"Lee","year":"2014","journal-title":"Br J Dermatol"},{"key":"2025082707294796000_17.9.e258400.12","doi-asserted-by":"crossref","DOI":"10.1186\/s12969-019-0349-y","article-title":"Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies","volume":"17","author":"Tirosh","year":"2019","journal-title":"Pediatr Rheumatol Online J"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-258400","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:29:55Z","timestamp":1756304995000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-258400"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":12,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2024,9,12]]},"published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1136\/bcr-2023-258400"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-258400","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9]]}}}