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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.15 | SIT1 |
Boaz Palterer gene: SIT1 was added gene: SIT1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: SIT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIT1 were set to 42128181 Phenotypes for gene: SIT1 were set to Combined immunodeficiency; Hodgkin lymphoma; Abnormal T cell physiology; Impaired CD8+ T cell cytotoxicity Penetrance for gene: SIT1 were set to unknown Review for gene: SIT1 was set to RED Added comment: Pu Chen et al. described 1 patient from 1 kindred, harboring homozygous mutations in the SIT1 gene. They presented with combined immune deficiency and recurrent Hodgkin lymphoma. The underlying mechanism and phenotype were validated ex vivo using patient-derived lymphocytes and in vitro using CRISPR-Cas9-mediated SIT1 knockout T cells from healthy donors, demonstrating skewed T cell subsets, increased activation and proliferation, impaired CD8+ cytotoxicity, and defective immune synapse maturation with vesicle accumulation upon T cell receptor stimulation. The phenotype was successfully recreated with complete knockout models. Sources: Literature |
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