: 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. : 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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1089/ped.2024.0062 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
RASGRP1 Deficiency Associated with Diffuse Mesangial Sclerosis Infantile Nephrotic Syndrome and Epstein-Barr Virus-Induced Hodgkin's Lymphoma.
Pediatr Allergy Immunol Pulmonol
January 2025
Clinical Immunology Unit, Faculty of Medicine and Health Sciences, Department of Paediatrics, Universiti Putra Malaysia, Selangor, Malaysia.
: 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. : 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.
View Article and Find Full Text PDFHistone-Lysine N-Methyltransferase 2D (KMT2D) Impending Therapeutic Target for the Management of Cancer: The Giant Rats Tail.
J Environ Pathol Toxicol Oncol
October 2024
Department of Biotechnology, PSG College of Arts & Science, Coimbatore, Tamil Nadu 614014, India.
The histone-lysine N-methyltransferase 2D (KMT2D), tumor suppressor gene which is the major component of histone H3K4 mono-methyltransferase in mammals and has significant role in regulation of a gene which are frequently mutated that lead to many different types of cancers that include non-Hodgkin lymphoma, medulloblastoma, prostate carcinoma, renal carcinoma, bladder carcinoma and lung carcinoma. KMT2D gene epigenetic alterations in histone methylation play a significant role for the initiation and progression of cancers from pre-cancerous lesions, yet its complete function in oncogenesis remains unsolved. KMT2D deficiency - loss are thought of initial mediators of cancer development and cell migration such as B-cell lymphoma, medulloblastoma, melanoma, pancreas and lung cancer.
View Article and Find Full Text PDFB-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
Immunogenetics
June 2024
Immunodeficiency Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Article Synopsis
- - Hypogammaglobulinemia without B-cells is a type of inborn error of immunity marked by low serum immunoglobulins and a lack of B-cells, with most cases linked to mutations in the BTK gene.
- - In a study of 27 patients from 13 families, researchers discovered several novel mutations in the BTK gene along with other genetic variants in different genes, which contribute to the condition's complexity.
- - The findings expand the understanding of this immunological disorder, especially within the Iranian community, highlighting that affected siblings may exhibit better disease management compared to other family members.
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Immunol Res
August 2024
Department of Pediatric Health and Diseases, Department of Pediatric Immunology, Faculty of Medicine, Ege University, Izmir, Turkey.
Human Inborn Errors of Immunity (IEIs) encompass a clinically and genetically heterogeneous group of disorders, ranging from mild cases to severe, life-threatening types. Among these, Primary Immune Regulatory Disorders (PIRDs) constitute a subset of IEIs characterized by diverse clinical phenotypes, prominently featuring severe atopy, autoimmunity, lymphoproliferation, hyperinflammation, autoinflammation, and susceptibility to malignancies. According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes including LYST, RAB27A, AP3B1, AP3D1, PRF1, UNC13D, STX11, STXBP2, FAAP24, SLC7A7, RASGRP1, CD70, CTPS1, RLTPR, ITK, MAGT1, PRKCD, TNFRSF9, SH2DIA, XIAP, CD27 (TNFRSF7), FAS (TNFRSF6), FASLG (TNFSF6), CASP10, CASP8, FADD, LRBA, STAT3, AIRE, ITCH, ZAP70, TPP2, JAK1, PEPD, FOXP3, IL2RA, CTLA4, BACH2, IL2RB, DEF6, FERMT1, IL10, IL10RA, IL10RB, NFAT5, TGFB1, and RIPK1 genes.
View Article and Find Full Text PDFA novel homozygous mutation in RASGRP1 that predisposes to immune dysregulation and immunodeficiency associated with uncontrolled Epstein-Barr virus-induced B cell proliferation.
Clin Immunol
December 2023
Department of Experimental Pathology, Immunology, and Microbiology, Faculty of Medicine, American University of Beirut, Beirut, Lebanon; Division of Pediatric Infectious Diseases, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon; Center for Infectious Diseases Research, American University of Beirut, Beirut, Lebanon; Research Center of Excellence in Immunity and Infections, American University of Beirut, Beirut, Lebanon. Electronic address:
Background: RASGRP1-deficiency results in an immune dysregulation and immunodeficiency that manifest as autoimmunity, lymphoproliferation, lymphopenia, defective T cell function, and increased incidence of Epstein-Bar Virus infections and lymphomas.
Objective: To investigate the mechanism of autoimmune hemolytic anemia and infections in a male patient of consanguineous parents from Lebanon.
Methods: Genetic diagnosis was obtained using next generation and Sanger sequencing.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!