Rasgrp1 deficiency associated with diffuse mesangial sclerosis infantile nephrotic syndrome and Epstein-Barr virus-induced Hodgkin’s lymphoma
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 a...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Mary Ann Liebert
2025
|
| Online Access: | http://psasir.upm.edu.my/id/eprint/119466/ http://psasir.upm.edu.my/id/eprint/119466/1/119466.pdf |
| _version_ | 1848867973501026304 |
|---|---|
| author | Mohamed Nashrudin, Khairoon Nisa Zainal Abidin, Mohd Azri Ng, Shi Eng Razali, Hadibiah Jawin, Vida Zakaria, Atiqah Farah Mohd Ali, Razana Othman, Ida Shahnaz Mohamed Unni, Mohamed Najib Hung, Christina Yuh-Ron Ismail, Intan Hakimah |
| author_facet | Mohamed Nashrudin, Khairoon Nisa Zainal Abidin, Mohd Azri Ng, Shi Eng Razali, Hadibiah Jawin, Vida Zakaria, Atiqah Farah Mohd Ali, Razana Othman, Ida Shahnaz Mohamed Unni, Mohamed Najib Hung, Christina Yuh-Ron Ismail, Intan Hakimah |
| author_sort | Mohamed Nashrudin, Khairoon Nisa |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-15T14:45:00Z |
| format | Article |
| id | upm-119466 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T14:45:00Z |
| publishDate | 2025 |
| publisher | Mary Ann Liebert |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-1194662025-09-11T03:47:44Z http://psasir.upm.edu.my/id/eprint/119466/ Rasgrp1 deficiency associated with diffuse mesangial sclerosis infantile nephrotic syndrome and Epstein-Barr virus-induced Hodgkin’s lymphoma Mohamed Nashrudin, Khairoon Nisa Zainal Abidin, Mohd Azri Ng, Shi Eng Razali, Hadibiah Jawin, Vida Zakaria, Atiqah Farah Mohd Ali, Razana Othman, Ida Shahnaz Mohamed Unni, Mohamed Najib Hung, Christina Yuh-Ron Ismail, Intan Hakimah 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. Mary Ann Liebert 2025-03-07 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/119466/1/119466.pdf 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 https://www.liebertpub.com/doi/10.1089/ped.2024.0062 10.1089/ped.2024.0062 |
| spellingShingle | Mohamed Nashrudin, Khairoon Nisa Zainal Abidin, Mohd Azri Ng, Shi Eng Razali, Hadibiah Jawin, Vida Zakaria, Atiqah Farah Mohd Ali, Razana Othman, Ida Shahnaz Mohamed Unni, Mohamed Najib Hung, Christina Yuh-Ron Ismail, Intan Hakimah Rasgrp1 deficiency associated with diffuse mesangial sclerosis infantile nephrotic syndrome and Epstein-Barr virus-induced Hodgkin’s lymphoma |
| title | Rasgrp1 deficiency associated with diffuse mesangial sclerosis infantile nephrotic syndrome and Epstein-Barr virus-induced Hodgkin’s lymphoma |
| title_full | Rasgrp1 deficiency associated with diffuse mesangial sclerosis infantile nephrotic syndrome and Epstein-Barr virus-induced Hodgkin’s lymphoma |
| title_fullStr | Rasgrp1 deficiency associated with diffuse mesangial sclerosis infantile nephrotic syndrome and Epstein-Barr virus-induced Hodgkin’s lymphoma |
| title_full_unstemmed | Rasgrp1 deficiency associated with diffuse mesangial sclerosis infantile nephrotic syndrome and Epstein-Barr virus-induced Hodgkin’s lymphoma |
| title_short | Rasgrp1 deficiency associated with diffuse mesangial sclerosis infantile nephrotic syndrome and Epstein-Barr virus-induced Hodgkin’s lymphoma |
| title_sort | rasgrp1 deficiency associated with diffuse mesangial sclerosis infantile nephrotic syndrome and epstein-barr virus-induced hodgkin’s lymphoma |
| url | http://psasir.upm.edu.my/id/eprint/119466/ http://psasir.upm.edu.my/id/eprint/119466/ http://psasir.upm.edu.my/id/eprint/119466/ http://psasir.upm.edu.my/id/eprint/119466/1/119466.pdf |