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Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated TCR signaling

ABSTRACT: Through BioID and mass spectrometry, we investigated SIT1 interactome in a patient with a homozygous SIT1 splice-site variant leading to immunodeficiency and lymphoma. SIT1, previously identified as a negative regulator of T-cell activation, was found to interact with vesicle trafficking proteins, including components of the SCAR/WAVE complex, TRAPP complex, and clathrin-coated pits.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Markku Varjosalo

PROVIDER: MSV000096801 | MassIVE | Wed Jan 08 04:40:00 GMT 2025

REPOSITORIES: MassIVE

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