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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | KARS |
Boaz Palterer gene: KARS was added gene: KARS was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 37770806 Phenotypes for gene: KARS were set to progressive leukoencephalopathy; peripheral neuropathy; deafness; antibody deficiency; hypogammaglobulinemia Penetrance for gene: KARS were set to unknown Review for gene: KARS was set to GREEN Added comment: KARS1 encodes lysyl-tRNA synthetase, an enzyme crucial for protein translation in both the cytoplasm and mitochondria. Classically associated with a multisystemic condition involving progressive leukoencephalopathy, peripheral neuropathy, and deafness, recent evidence establishes KARS1 defects as an Inborn Error of Immunity (IEI) characterized by B cell metabolic impairment and antibody deficiency. Saettini et al. identified 1 patient from 1 family carrying pathogenic biallelic KARS1 variants (p.Phe291Val/p.Pro499Leu) presenting with hypogammaglobulinemia, recurrent infections, and impaired B cell activity. From literature review 17 patients with KARS-related diseases were identified. Recurrent/severe infections (9/17) and B cell abnormalities (either B cell lymphopenia [3/9], hypogammaglobulinemia [either IgG, IgA or IgM; 6/15] or impaired vaccine responses [4/7]) were frequently reported. Sources: Literature |
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