一种新的CARMIL2双等位基因变异引起的继发性膜性肾病和免疫缺陷。

IF 0.8 Q4 UROLOGY & NEPHROLOGY

Indian Journal of Nephrology Pub Date : 2024-11-01 Epub Date: 2024-06-17 DOI:10.25259/ijn_542_23

Lakshmi Priya Rao, Vishaka Kothiwale, Periyasamy Radhakrishnan, Dharshan Rangaswamy, Anju Shukla, Vivekananda Bhat

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引用次数: 0

摘要

胞质capping蛋白Arp2/3和myosin-I连接蛋白2或CARMIL2在T/B/NK细胞功能中起重要作用。已知引起CARMIL2变异的双等位基因疾病会导致免疫缺陷58。我们报告一个13岁的女孩反复感染，皮炎和肾病综合征自童年。肾活检提示膜性肾病。外显子组测序显示，在CARMIL2 （NM_001013838.3）中发现了一种纯合子的新型停止变异体c.520C . >T。我们扩大了CARMIL2相关免疫缺陷的表型谱，包括继发于可能的免疫失调的膜性肾病。

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Secondary Membranous Nephropathy and Immunodeficiency due to a Novel Biallelic Variant in CARMIL2.

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>T in CARMIL2 (NM_001013838.3). We expand the phenotypic spectrum of CARMIL2 related immunodeficiency to include membranous nephropathy secondary to probable immune dysregulation.

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