CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature
- PMID: 34738861
- DOI: 10.1080/15513815.2021.2000533
CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature
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.
Keywords: CARMIL2 deficiency; EBER; Epstein Barr virus; Primary immunodeficiency; smooth muscle actin; smooth muscle tumor.
Similar articles
-
A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.Front Immunol. 2020 Jun 18;11:884. doi: 10.3389/fimmu.2020.00884. eCollection 2020. Front Immunol. 2020. PMID: 32625199 Free PMC article.
-
Epstein-Barr virus-associated smooth muscle tumors are distinctive mesenchymal tumors reflecting multiple infection events: a clinicopathologic and molecular analysis of 29 tumors from 19 patients.Am J Surg Pathol. 2006 Jan;30(1):75-82. doi: 10.1097/01.pas.0000178088.69394.7b. Am J Surg Pathol. 2006. PMID: 16330945
-
Epstein-Barr virus-associated adrenal smooth muscle tumors and disseminated diffuse large B-cell lymphoma in a child with common variable immunodeficiency: a case report and review of the literature.Int J Surg Pathol. 2014 Dec;22(8):712-21. doi: 10.1177/1066896911399901. Epub 2011 Mar 31. Int J Surg Pathol. 2014. PMID: 21454372 Review.
-
Epstein-Barr virus-associated smooth muscle tumor of the cavernous sinus: a delayed complication of allogenic peripheral blood stem cell transplantation: case report.J Neurosurg. 2017 May;126(5):1479-1483. doi: 10.3171/2016.4.JNS16290. Epub 2016 Jun 24. J Neurosurg. 2017. PMID: 27341041
-
Epstein-Barr Virus+ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders.Front Immunol. 2018 Feb 27;9:368. doi: 10.3389/fimmu.2018.00368. eCollection 2018. Front Immunol. 2018. PMID: 29535735 Free PMC article. Review.
Cited by
-
Update on the Pathology of Pediatric Liver Tumors: A Pictorial Review.Diagnostics (Basel). 2023 Nov 24;13(23):3524. doi: 10.3390/diagnostics13233524. Diagnostics (Basel). 2023. PMID: 38066766 Free PMC article. Review.
-
Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.J Clin Immunol. 2024 Oct 28;45(1):34. doi: 10.1007/s10875-024-01810-w. J Clin Immunol. 2024. PMID: 39466473
-
Epstein-Barr virus-associated smooth muscle tumors in immunocompromised patients: Six case reports.World J Clin Oncol. 2022 Jun 24;13(6):540-552. doi: 10.5306/wjco.v13.i6.540. World J Clin Oncol. 2022. PMID: 35949429 Free PMC article.
-
Imaging of cystic fibrosis manifestations in the abdomen.Abdom Radiol (NY). 2025 May;50(5):1953-1978. doi: 10.1007/s00261-024-04636-7. Epub 2024 Nov 11. Abdom Radiol (NY). 2025. PMID: 39527257 Review.
-
Epstein-Barr virus pathogenesis and emerging control strategies.Nat Rev Microbiol. 2025 Apr 25. doi: 10.1038/s41579-025-01181-y. Online ahead of print. Nat Rev Microbiol. 2025. PMID: 40281073 Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
