ERC Starting Grant · 2025
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 factor IIIA (TFIIIA), in (S)CID patients with early T-cell differentiation block. TFIIIA plays a critical housekeeping role by transcribing 5S ribosomal RNA, essential for ribosome assembly and nucleolar…
From the public funding record at EU CORDIS. Describes the funded project, not the reviews below.