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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主要な著者:	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
フォーマット:	Artigo
言語:	Inglês
出版事項:	Frontiers Media S.A. 2020-06-01
シリーズ:	Frontiers in Immunology
主題:	primary immunodeficiencies immune dysregulation CARMIL2 deficiency RLTPR DOCK8 deficiency EBV-associated smooth muscle tumor
オンライン･アクセス:	https://www.frontiersin.org/article/10.3389/fimmu.2020.00884/full
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