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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Detalles Bibliográficos
Autores principales: Yonkof, Jennifer R., Gupta, Ajay, Rueda, Cesar M., Mangray, Shamlal, Prince, Benjamin T., Rangarajan, Hemalatha G., Alshahrani, Mohammad, Varga, Elizabeth, Cripe, Timothy P., Abraham, Roshini S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314954/
https://www.ncbi.nlm.nih.gov/pubmed/32625199
http://dx.doi.org/10.3389/fimmu.2020.00884

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314954/
https://www.ncbi.nlm.nih.gov/pubmed/32625199
http://dx.doi.org/10.3389/fimmu.2020.00884

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