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

Authors

Lakshmi Priya Rao, Kasturba Medical College, Manipal
Vishaka Kothiwale, Kasturba Medical College, Manipal
Periyasamy Radhakrishnan, Kasturba Medical College, Manipal
Dharshan Rangaswamy, Kasturba Medical College, Manipal

Document Type

Article

Publication Title

Indian Journal of Nephrology

Abstract

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.

First Page

667

Last Page

669

DOI

10.25259/ijn_542_23

Publication Date

11-1-2024

Recommended Citation

Rao, Lakshmi Priya; Kothiwale, Vishaka; Radhakrishnan, Periyasamy; and Rangaswamy, Dharshan, "Secondary Membranous Nephropathy and Immunodeficiency due to a Novel Biallelic Variant in CARMIL2" (2024). Open Access archive. 9865.
https://impressions.manipal.edu/open-access-archive/9865