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1例罕见的伴有IgM为主的膜增生性肾小球肾炎的coronin-1A缺乏症病例。

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

作者信息

Ural Zeynep, Ogüt Betül, Kayhan Gülsüm, Gönül Ipek Işık, Derici Ulver

机构信息

Department of Nephrology, Kırıkkale Yüksek Ihtisas Hospital, Kırıkkale, Turkey.

Department of Pathology, Faculty of Medicine, Gazi University, Ankara, Turkey.

出版信息

CEN Case Rep. 2025 Jun 4. doi: 10.1007/s13730-025-01004-2.

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.

摘要

由CORO1A基因突变引起的冠蛋白-1A缺乏症是一种常染色体隐性免疫缺陷病,其特征为T细胞功能障碍,被归类为重症联合免疫缺陷病(SCID)。这种病症表现为淋巴细胞减少、低丙种球蛋白血症、复发性EB病毒(EBV)感染、EBV相关的B细胞淋巴瘤和疣状表皮发育不良。本病例报告介绍了一名32岁患有冠蛋白-1A缺乏症的女性,她在反复病毒感染的同时还患上了以IgM为主的膜增生性肾小球肾炎(MPGN)。这是首例报道的将冠蛋白-1A缺乏症与MPGN联系起来的病例。该患者接受了皮质类固醇治疗,肾功能有所改善,但她在一年内死于反复感染。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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