{Reference Type}: Journal Article
{Title}: CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature.
{Author}: Vij M;Sivasankaran M;Jayaraman D;Sankaranarayanan S;Kumar V;Munirathnam D;Scott J;
{Journal}: Fetal Pediatr Pathol
{Volume}: 0
{Issue}: 0
{Year}: Nov 2021 5
{Factor}: 1.412
{DOI}: 10.1080/15513815.2021.2000533
{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.