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RASGRP1 Deficiency Associated with Diffuse Mesangial Sclerosis Infantile Nephrotic Syndrome and Epstein-Barr
Khairoon Nisa Mohamed Nashrudin1,2, Mohd Azri Zainal Abidin1,2, Shi Eng Ng3
1Clinical Immunology Unit, Faculty of Medicine and Health Sciences, Department of Paediatrics, Universiti Putra Malaysia, Selangor, Malaysia.
Pediatric Allergy, Immunology, and Pulmonology
|January 3, 2025
Summary
RAS guanyl-releasing protein 1 (RASGRP1) deficiency presents with immune issues and Epstein-Barr virus (EBV) infections. This case highlights varied presentations of RASGRP1 deficiency, including nephrotic syndrome and lymphoma.
Area of Science:
- Immunology
- Genetics
- Pediatric Nephrology
Background:
- RAS guanyl-releasing protein 1 (RASGRP1) deficiency causes immune dysregulation and EBV-related lymphoproliferation.
- Diffuse mesangial sclerosis is a rare cause of infantile nephrotic syndrome.
Purpose of the Study:
- To describe a unique case of RASGRP1 deficiency in a Malaysian child.
- To highlight the diverse clinical manifestations and diagnostic challenges of RASGRP1 deficiency.
Main Methods:
- Clinical assessment and investigations of a 7-year-old girl with diffuse mesangial sclerosis.
- Genetic testing to identify the causative variant.
- Review of clinical presentation including lymphadenopathy, infections, and immunological deficiencies.
Main Results:
- The patient presented with diffuse mesangial sclerosis, chronic neck swelling, recurrent infections, and autoimmune lymphoproliferative syndrome-like illness.
- Genetic analysis revealed a homozygous loss-of-function variant in RASGRP1.
- The patient developed Hodgkin lymphoma and chronic EBV infection.
Conclusions:
- This case represents the first reported instance of RASGRP1 deficiency in Malaysia.
- RASGRP1 deficiency can present with a complex and varied clinical spectrum, posing diagnostic challenges.
- Early genetic identification is crucial for managing immune dysregulation and associated complications.
Keywords:
Epstein–Barr virusRASGRP1 deficiencydiffused mesangial sclerosisimmunodeficiencylymphoproliferationnephrotic syndromeMore Related Videos
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