Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia

Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia

IntroductionNewborn screening for immunodeficiency has led to the identification of numerous cases for which the causal etiology is unknown.MethodsHere we report the diagnosis of T lymphopenia of unknown etiology in a male proband. Whole exome sequencing (WES) was employed to nominate candidate vari...

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Bibliographic Details
Main Authors: Robert Sertori, Billy Truong, Manoj K. Singh, Susan Shinton, Rachael Price, Andrew Sharo, Paulameena Shultes, Uma Sunderam, Sadhna Rana, Rajgopal Srinivasan, Sutapa Datta, Joan Font-Burgada, Steven E. Brenner, Jennifer M. Puck, David L. Wiest
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Immunology
Subjects:
T lymphocyte
thymus
immunodeficiency
zebrafish
CHTF18
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1539848/full
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