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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.18 | ZBTB7B |
Boaz Palterer gene: ZBTB7B was added gene: ZBTB7B was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: ZBTB7B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZBTB7B were set to 40392549 Phenotypes for gene: ZBTB7B were set to CD4+ T-cell deficiency; Allergic disease; Interstitial lung disease; Corneal neovascularization; Corneal scarring; Global developmental delay; Growth failure Penetrance for gene: ZBTB7B were set to unknown Review for gene: ZBTB7B was set to RED Added comment: Vaseghi-Shanjani et al. described 1 patient from 1 kindred, harboring a de novo heterozygous mutation in the ZBTB7B gene encoding ThPOK. They presented with persistent CD4+ T cell deficiency, allergy, interstitial lung disease, corneal vascularization and scarring, developmental delay, and growth failure. The underlying mechanism and phenotype were validated in vitro using lentivirally transduced healthy control T cells and fibroblasts, demonstrating impaired T cell receptor activation and increased profibrotic gene expression. The study did not specify whether the phenotype was successfully recreated with complete knockout (KO) models or if the defect was corrected via rescue experiments. Sources: Literature |
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