A rare case of coronin-1A deficiency with IgM dominant membranoproliferative glomerulonephritis.

IF 0.7 Q4 UROLOGY & NEPHROLOGY
CEN Case Reports Pub Date : 2025-10-01 Epub Date: 2025-06-04 DOI:10.1007/s13730-025-01004-2
Zeynep Ural, Betül Ogüt, Gülsüm Kayhan, Ipek Işık Gönül, Ulver Derici
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引用次数: 0

Abstract

Coronin-1A deficiency, caused by mutations in the CORO1A gene, is an autosomal recessive immunodeficiency characterized by T-cell dysfunction and is classified as severe combined immunodeficiency (SCID). This condition presents with lymphopenia, hypogammaglobulinemia, recurrent Epstein-Barr virus (EBV) infections, EBV-associated B-cell lymphoma and epidermodysplasia verruciformis. This case report presents a 32-year-old female with Coronin-1A deficiency, who developed IgM-dominant membranoproliferative glomerulonephritis (MPGN) alongside recurrent viral infections. This is the first reported case linking Coronin-1A deficiency with MPGN. The patient was treated with corticosteroids, which improved her renal function, but she succumbed to recurrent infections within a year. This case emphasizes the potential for renal disease in immunodeficient patients with persistent infections.

冠状蛋白1a缺乏伴IgM显性膜增生性肾小球肾炎1例。
冠状蛋白1a缺乏症是一种常染色体隐性免疫缺陷,由CORO1A基因突变引起,以t细胞功能障碍为特征,被归类为严重联合免疫缺陷(SCID)。这种情况表现为淋巴细胞减少、低γ球蛋白血症、复发性eb病毒感染、eb病毒相关的b细胞淋巴瘤和疣状表皮发育不良。本病例报告报告了一位32岁的冠状蛋白1a缺乏的女性,她发展为igm显性膜增生性肾小球肾炎(MPGN)并伴有复发性病毒感染。这是首例将冠状蛋白- 1a缺乏与MPGN联系起来的病例报道。患者接受了皮质类固醇治疗,这改善了她的肾功能,但她在一年内死于复发性感染。本病例强调了持续感染的免疫缺陷患者发生肾脏疾病的可能性。
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来源期刊
CEN Case Reports
CEN Case Reports UROLOGY & NEPHROLOGY-
CiteScore
1.90
自引率
0.00%
发文量
80
期刊介绍: Clinical and Experimental Nephrology (CEN) Case Reports is a peer-reviewed online-only journal, officially published biannually by the Japanese Society of Nephrology (JSN).  The journal publishes original case reports in nephrology and related areas.  The purpose of CEN Case Reports is to provide clinicians and researchers with a forum in which to disseminate their personal experience to a wide readership and to review interesting cases encountered by colleagues all over the world, from whom contributions are welcomed.
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