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LYNCID investigates severe combined immune deficiencies caused by T-cell dysfunction, focusing on the role of the transcription factor IIIA in T-cell development and nucleolar stress response. The project aims to improve diagnosis and understanding of these immune disorders.
LYNCID addresses critical gaps in our understanding of (severe) combined immune deficiencies ((S)CIDs), a group of debilitating inborn errors of immunity caused by T-cell dysfunction.
Although over 100 (S)CID-causing genes are known, 30-40% of (S)CID patients remain molecularly undiagnosed, resulting in high mortality.
Better knowledge and timely diagnosis of (S)CID represent critical unmet medical needs.
Recently, my team has identified biallelic mutations in GTF3A, encoding transcription facto…
UNIVERSITEIT GENT
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