ArticleFrontiers in immunology2025
Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia.
Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Newborn screening for immunodeficiency has led to the identification of numerous cases for which the causal etiology is unknown. Methods: Here we report the diagnosis of T lymphopenia of unknown etiology in a male proband. Whole exome sequencing (WES) was employed to nominate candidate variants, which were then analyzed functionally in zebrafish and in mice bearing orthologous mutations. Results: WES revealed missense mutations in Discussion: Accordingly, we propose that T lymphopenia in our patient resulted from disturbed cell-cell contacts and migration of HSPC, caused by a non-canonical function of CHTF18 in regulating gene expression.
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