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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.109 | HOXA3 |
Boaz Palterer changed review comment from: Dinges et al. described 1 patient from 1 kindred, harboring homozygous mutations in the HOXA3 gene. They presented with congenital athymia, craniofacial and cervical anomalies, and severe laryngopharyngeal malformation with epiglottic hypoplasia causing dysphagia and aspiration. The underlying mechanism and phenotype were validated in vitro using artificial thymic organoids, demonstrating that the truncated protein undergoes cytoplasmic retention and reduced transcriptional activity, resulting in a strictly non-hematopoietic failure of T-cell maturation. Sources: Literature; to: Dinges et al. described 1 patient from 1 kindred, harboring homozygous mutations in the HOXA3 gene. They presented with congenital athymia, craniofacial and cervical anomalies, and severe laryngopharyngeal malformation with epiglottic hypoplasia causing dysphagia and aspiration. The underlying mechanism and phenotype were validated in vitro using artificial thymic organoids, demonstrating that the truncated protein undergoes cytoplasmic retention and reduced transcriptional activity, resulting in a strictly non-hematopoietic failure of T-cell maturation. Sources: Literature |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.109 | HOXA3 |
Boaz Palterer gene: HOXA3 was added gene: HOXA3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: HOXA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXA3 were set to 42805310 Phenotypes for gene: HOXA3 were set to Congenital athymia; Hypoplasia of the epiglottis; Dysphagia; Respiratory aspiration; Abnormality of the face; Abnormality of the neck; Severe combined immunodeficiency Penetrance for gene: HOXA3 were set to unknown Added comment: Dinges et al. described 1 patient from 1 kindred, harboring homozygous mutations in the HOXA3 gene. They presented with congenital athymia, craniofacial and cervical anomalies, and severe laryngopharyngeal malformation with epiglottic hypoplasia causing dysphagia and aspiration. The underlying mechanism and phenotype were validated in vitro using artificial thymic organoids, demonstrating that the truncated protein undergoes cytoplasmic retention and reduced transcriptional activity, resulting in a strictly non-hematopoietic failure of T-cell maturation. Sources: Literature |
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