Associated Papers
CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature.
Vij M et al.
Fetal and Pediatric Pathology, 2022
Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy.
Zhu Y et al.
Frontiers in Pediatrics, 2022
36727012 (PubMed )
Supplement: Datasheet3.pdf
A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.
Yonkof JR et al.
Frontiers in Immunology, 2020
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