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Rasgrp1 deficiency associated with diffuse mesangial sclerosis infantile nephrotic syndrome and Epstein-Barr virus-induced Hodgkin’s lymphoma


Citation

Mohamed Nashrudin, Khairoon Nisa and Zainal Abidin, Mohd Azri and Ng, Shi Eng and Razali, Hadibiah and Jawin, Vida and Zakaria, Atiqah Farah and Mohd Ali, Razana and Othman, Ida Shahnaz and Mohamed Unni, Mohamed Najib and Hung, Christina Yuh-Ron and Ismail, Intan Hakimah (2025) Rasgrp1 deficiency associated with diffuse mesangial sclerosis infantile nephrotic syndrome and Epstein-Barr virus-induced Hodgkin’s lymphoma. Pediatric Allergy, Immunology, and Pulmonology, 38 (1). pp. 11-20. ISSN 2151-321X; eISSN: 2151-3228

Abstract

RASGRP1 deficiency is characterized by immune dysregulation and Epstein-Barr virus (EBV)-related lymphoproliferation. Diffuse mesangial sclerosis is one of the infrequent causes of infantile nephrotic syndrome. Here, we described a 7-year-old girl who was diagnosed with diffuse mesangial sclerosis at 5 months old and subsequently developed chronic bilateral neck swelling at the age of 3 years. Clinical assessment and investigations revealed a complex clinical picture, including recurrent cervical lymphadenopathy and recurrent infections. Further evaluation revealed immunological deficiencies, autoimmune lymphoproliferative syndrome-like illness, chronic EBV infection, and ultimately Hodgkin lymphoma. Genetic testing identified a RASGRP1 homozygous loss-of-function variant with both parents being carriers. This is the first reported case of RASGRP1 deficiency in Malaysia and we highlight the challenges clinicians face when the disease manifests in varied presentations.


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Additional Metadata

Item Type: Article
Divisions: Faculty of Medicine and Health Science
DOI Number: https://doi.org/10.1089/ped.2024.0062
Publisher: Mary Ann Liebert
Keywords: RASGRP1 deficiency; Epstein-barr virus; Lymphoproliferation; Diffused mesangial sclerosis; Nephrotic syndrome; Immunodeficiency
Depositing User: Ms. Che Wa Zakaria
Date Deposited: 11 Sep 2025 03:47
Last Modified: 11 Sep 2025 03:47
Altmetrics: http://www.altmetric.com/details.php?domain=psasir.upm.edu.my&doi=10.1089/ped.2024.0062
URI: http://psasir.upm.edu.my/id/eprint/119466
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