CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature. (2nd November 2022)

• Record Type: Journal Article
• Authors: Vij, Mukul; Sivasankaran, Meena; Jayaraman, Dhaarani; Sankaranarayanan, Srinivas; Kumar, Vimal; Munirathnam, Deenadayalan; Scott, Julius
• Is Part Of: Fetal and pediatric pathology. Volume 41:Number 6(2022)
• Page Start: 1023
• Page End: 1034
• Publication Date: 2022-11-02
• Subjects: Primary immunodeficiency -- CARMIL2 deficiency -- Epstein Barr virus -- smooth muscle tumor -- smooth muscle actin -- EBER; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2021.2000533
• Languages: English
• ISSNs: 1551-3815

Abstract

Abstract: Background: Primary immunodeficiency (PID) having defects related to lymphocyte cytotoxic pathway or T-cell dysfunction are well known for developing opportunistic infections and Epstein-Barr virus (EBV)-associated diseases. CARMIL2 deficiency is a recently described combined immunodeficiency (CID) disorder characterized by defective CD28-mediated T cell co-stimulation, altered cytoskeletal dynamics, susceptibility to various infections and Epstein Barr Virus smooth muscle tumor (EBV-SMT). Case report: We report a homozygous CARMIL2 pathogenic variant presenting with recurrent infections and EBV associated smooth muscle tumor (SMT) in a child. Conclusion: The present study reports that EBV SMT may occur in a child with CARMIL2 deficiency.