{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:56:16Z","timestamp":1780473376846,"version":"3.54.1"},"reference-count":16,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy, Immunology, and Pulmonology"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>RAS guanyl-releasing protein 1 (RASGRP1) deficiency is characterized by immune dysregulation and Epstein\u2013Barr virus (EBV)-related lymphoproliferation. Diffuse mesangial sclerosis is one of the infrequent causes of infantile nephrotic syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/ped.2024.0062","type":"journal-article","created":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T11:44:11Z","timestamp":1735904651000},"page":"11-20","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["RASGRP1 Deficiency Associated with Diffuse Mesangial Sclerosis Infantile Nephrotic Syndrome and Epstein\u2013Barr Virus-Induced Hodgkin\u2019s Lymphoma"],"prefix":"10.1177","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3827-8457","authenticated-orcid":false,"given":"Khairoon Nisa","family":"Mohamed Nashrudin","sequence":"first","affiliation":[{"name":"Clinical Immunology Unit, Faculty of Medicine and Health Sciences, Department of Paediatrics, Universiti Putra Malaysia, Selangor, Malaysia."},{"name":"Advanced Medical Research in Allergy and Clinical Immunology (AMRAC), Hospital Sultan Abdul Aziz Shah, Universiti Putra Malaysia, Selangor, Malaysia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohd Azri","family":"Zainal Abidin","sequence":"additional","affiliation":[{"name":"Clinical Immunology Unit, Faculty of Medicine and Health Sciences, Department of Paediatrics, Universiti Putra Malaysia, Selangor, Malaysia."},{"name":"Advanced Medical Research in Allergy and Clinical Immunology (AMRAC), Hospital Sultan Abdul Aziz Shah, Universiti Putra Malaysia, Selangor, Malaysia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shi Eng","family":"Ng","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Hospital Sultan Ismail, Johor, Malaysia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadibiah","family":"Razali","sequence":"additional","affiliation":[{"name":"Paediatric Haemato-Oncology Unit, Hospital Sultan Ismail, Johor, Malaysia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vida","family":"Jawin","sequence":"additional","affiliation":[{"name":"Paediatric Haemato-Oncology Unit, Hospital Sultan Ismail, Johor, Malaysia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atiqah Farah","family":"Zakaria","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Sciences, Department of Otorhinolaryngology-Head and Neck Surgery, Universiti Putra Malaysia, Selangor, Malaysia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Razana","family":"Mohd Ali","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Sciences, Department of Pathology, Universiti Putra Malaysia, Selangor, Malaysia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Shahnaz","family":"Othman","sequence":"additional","affiliation":[{"name":"Paediatric Haemato-Oncology Unit, Hospital Tunku Azizah, Kuala Lumpur, Malaysia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed Najib","family":"Mohamed Unni","sequence":"additional","affiliation":[{"name":"Paediatric Haemato-Oncology Unit, Hospital Tunku Azizah, Kuala Lumpur, Malaysia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina Yuh-Ron","family":"Hung","sequence":"additional","affiliation":[{"name":"Invitae Corporation, San Francisco, California, 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