Article

A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly

2020-10-22

Abstract excerpt

<title>Abstract</title> <p>Ciliogenesis proteins orchestrate vesicular trafficking pathways that regulate immune synapse (IS) assembly in the non-ciliated T cells. We hypothesized that ciliogenesis-related genes might be disease candidates for common variable immunodeficiency with impaired T-cell function (T-CVID). We identified a heterozygous, predicted pathogenic variant in the ciliogenesis protein CCDC28B pres...

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Literature Corpus work: 6897323b-5981-596c-b42c-6f132b3bd104
DOI: 10.21203/rs.3.rs-86351/v1

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