Affiliations 

  • 1 Clinical Immunology Unit, Faculty of Medicine and Health Sciences, Department of Paediatrics, Universiti Putra Malaysia, Selangor, Malaysia
  • 2 Department of Paediatrics, Hospital Sultan Ismail, Johor, Malaysia
  • 3 Paediatric Haemato-Oncology Unit, Hospital Sultan Ismail, Johor, Malaysia
  • 4 Faculty of Medicine and Health Sciences, Department of Otorhinolaryngology-Head and Neck Surgery, Universiti Putra Malaysia, Selangor, Malaysia
  • 5 Faculty of Medicine and Health Sciences, Department of Pathology, Universiti Putra Malaysia, Selangor, Malaysia
  • 6 Paediatric Haemato-Oncology Unit, Hospital Tunku Azizah, Kuala Lumpur, Malaysia
  • 7 Invitae Corporation, San Francisco, California, USA
Pediatr Allergy Immunol Pulmonol, 2025 Mar;38(1):11-20.
PMID: 39752212 DOI: 10.1089/ped.2024.0062

Abstract

Background: RAS guanyl-releasing protein 1 (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. Case Presentation: 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. Conclusion: 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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.