{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T03:38:57Z","timestamp":1792553937757,"version":"4.5.0"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T00:00:00Z","timestamp":1792454400000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Autoinflammatory\u2010pancytopenia syndrome (AIPCS) is a rare autosomal recessive disease caused by a mutation in the deoxyribonuclease II (DNASE2) gene. It has mainly haematological manifestations and recurrent fevers. The kidney could be involved in the form of proteinuria, membranoproliferative glomerulonephritis (MPGN) or immune complex deposition rather than acute kidney injury (AKI) or C3 glomerulopathy (C3G). A six\u2010year\u2010old male child presented with high\u2010grade fever, AKI, generalized edema and hypertension. He had a history of recurrent hospital admission with fever, arthritis, skin rash and recurrent infections in the form of diarrhoea and chest infection. He had stunted growth, pallor, hepatosplenomegaly (HSM) and skin hyperpigmentation at the sites of the healed vasculitic skin rash. He was diagnosed with hemophagocytic lymphohistiocytosis and received its protocol of treatment with improvement of fever. However, pancytopenia and HSM were still progressive. Laboratory investigations revealed pancytopenia, impaired kidney function tests and heavy\u2010range proteinuria with persistent low C3 level. Kidney biopsy revealed C3 deposition suggestive of C3G, with 20% global glomerulosclerosis, mild interstitial fibrosis and tubular atrophy (10%). Kidney function tests normalized after receiving intravenous methylprednisolone, but proteinuria is still persistent, which indicates that AKI was on top of chronic kidney disease in the presence of C3G. Whole exome sequencing revealed a homozygous (missense) variant of uncertain significance with pathogenic evidence in exon\u20106 of the DNASE2 gene causing AIPCS. In conclusion, C3G is a new form of kidney involvement associated with AIPCS. Kidney histopathology should be combined with phenotypic\u2010genotypic aspects of AIPCS.<\/jats:p>","DOI":"10.1111\/nep.70300","type":"journal-article","created":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T02:51:03Z","timestamp":1792551063000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>C3<\/scp>\n                    Glomerulopathy in Autoinflammatory\u2010Pancytopenia Syndrome: A Case Report"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9009-165X","authenticated-orcid":false,"given":"Shaimaa","family":"Sayed","sequence":"first","affiliation":[{"name":"Pediatric Department, Faculty of Medicine Cairo University  Giza Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,20]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"crossref","first-page":"103920","DOI":"10.1016\/j.ejmg.2020.103920","article-title":"Genetic Diagnosis of Autoinflammatory Disease Patients Using Clinical Exome Sequencing","volume":"63","author":"Batlle\u2010Mas\u00f3 L.","year":"2020","journal-title":"European Journal of Medical Genetics"},{"key":"e_1_2_11_3_1","volume-title":"Autoinflammatory Pancytopenia Syndrome","author":"Kniffin C. L.","year":"2022"},{"key":"e_1_2_11_4_1","doi-asserted-by":"crossref","first-page":"2176","DOI":"10.1038\/s41467-017-01932-3","article-title":"Type I Interferon\u2010Mediated Autoinflammation due to DNase II Deficiency","volume":"8","author":"Rodero M. P.","year":"2017","journal-title":"Nature Communication"},{"key":"e_1_2_11_5_1","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/nrneph.2014.217","article-title":"Histopathology of MPGN and\u00a0C3\u00a0Glomerulopathies","volume":"11","author":"Cook H. T.","year":"2015","journal-title":"Nature Reviews. Nephrology"},{"key":"e_1_2_11_6_1","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1038\/ki.2013.377","article-title":"C3 Glomerulopathy: Consensus Report","volume":"84","author":"Pickering M. C.","year":"2013","journal-title":"Kidney International"},{"key":"e_1_2_11_7_1","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1007\/s00467-024-06587-z","article-title":"C3 Glomerulopathy in Children: A European Longitudinal Study Evaluating Outcome","volume":"40","author":"Cappoli A.","year":"2025","journal-title":"Pediatric Nephrology"},{"key":"e_1_2_11_8_1","doi-asserted-by":"crossref","first-page":"1289812","DOI":"10.3389\/fmed.2023.1289812","article-title":"C3 Glomerulonephritis: Dense Deposit Disease and C3 Glomerulonephritis","volume":"10","author":"Ponticelli C.","year":"2023","journal-title":"Frontiers in Medicine"},{"key":"e_1_2_11_9_1","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1159\/000524552","article-title":"C3 Glomerulopathy: A Review With Emphasis on Ultrastructural Features","volume":"2","author":"Hou J.","year":"2022","journal-title":"Glomerular Diseases"},{"key":"e_1_2_11_10_1","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/j.jaci.2019.11.020","article-title":"Janus Kinase Inhibition for Autoinflammation in Patients With DNASE2 Deficiency","volume":"145","author":"Hong Y.","year":"2020","journal-title":"Journal of Allergy and Clinical Immunology"},{"key":"e_1_2_11_11_1","doi-asserted-by":"crossref","first-page":"110","DOI":"10.24911\/JBCGenetics.11-2425","article-title":"Expanding the Genetic Spectrum of DNASE2 Variants in the Middle East: First Case of Neonatal\u2010Onset Autoinflammatory Pancytopenia Syndrome From Oman","volume":"8","author":"Al Hashmi S.","year":"2025","journal-title":"Journal of Biochemical and Clinical Genetics"},{"key":"e_1_2_11_12_1","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1007\/s00296-018-4092-3","article-title":"C3 Glomerulopathy in NLRP12\u2010Related Autoinflammatory Disorder: Case\u2010Based Review","volume":"38","author":"Ba\u015faran \u00d6.","year":"2018","journal-title":"Rheumatology International"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70300","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nep.70300","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70300","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T02:51:06Z","timestamp":1792551066000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.70300"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1111\/nep.70300"],"URL":"https:\/\/doi.org\/10.1111\/nep.70300","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10]]},"assertion":[{"value":"2026-08-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70300"}}