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2 articles related to "Carmil2 Deficiency"

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Articles

Case Report

Published on 18 Jun 2020

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

in Primary Immunodeficiencies

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

Frontiers in Immunology

doi 10.3389/fimmu.2020.00884

9,909 views
39 citations

Case Report

Published on 16 Jan 2023

Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy

in Pediatric Immunology

Yu Zhu
Lili Ye
Hua Huang
Xuemei Xu
Yu Liu
Jian Wang
Yanliang Jin

Frontiers in Pediatrics

doi 10.3389/fped.2022.1042302

6,016 views
6 citations