A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors

A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors

CARMIL2 deficiency is a rare combined immunodeficiency (CID) characterized by defective CD28-mediated T cell co-stimulation, altered cytoskeletal dynamics, and susceptibility to Epstein Barr Virus smooth muscle tumors (EBV-SMTs). Case reports associated with EBV-SMTs are limited. We describe herein...

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Bibliographic Details
Main Authors: Jennifer R. Yonkof, Ajay Gupta, Cesar M. Rueda, Shamlal Mangray, Benjamin T. Prince, Hemalatha G. Rangarajan, Mohammad Alshahrani, Elizabeth Varga, Timothy P. Cripe, Roshini S. Abraham
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-06-01
Series:Frontiers in Immunology
Subjects:
primary immunodeficiencies
immune dysregulation
CARMIL2 deficiency
RLTPR
DOCK8 deficiency
EBV-associated smooth muscle tumor
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2020.00884/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2020.00884/full

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