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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.15 | ITGAL |
Boaz Palterer gene: ITGAL was added gene: ITGAL was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: ITGAL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGAL were set to 41758928 Phenotypes for gene: ITGAL were set to epidermodysplasia verruciformis Penetrance for gene: ITGAL were set to unknown Review for gene: ITGAL was set to GREEN Added comment: Yatim et al. described 6 subjects from 4 kindreds with biallelic variants in ITGAL presenting with EV, accounting for 10% of unexplained EV cohort. The EV cohort was therefore highly enriched in individuals homozygous for predicted deleterious ITGAL variants (10%, 4 of 40), compared with patients with other infectious diseases (0 of 25,329) and with the general population (0 of 807,162). Follows extensive ex-vivo and in vitro functional validation. Sources: Literature |
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