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

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)...

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Published inFetal and pediatric pathology Vol. 41; no. 6; pp. 1023 - 1034
Main Authors Vij, Mukul, Sivasankaran, Meena, Jayaraman, Dhaarani, Sankaranarayanan, Srinivas, Kumar, Vimal, Munirathnam, Deenadayalan, Scott, Julius
Format Journal Article
LanguageEnglish
Published Taylor & Francis 02.11.2022
Subjects
CARMIL2 deficiency
EBER
Epstein Barr virus
Primary immunodeficiency
smooth muscle actin
smooth muscle tumor
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Review-3
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ISSN:1551-3815
1551-3823
DOI:10.1080/15513815.2021.2000533