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| Genomic newborn screening: ICoNS v0.41 | Zornitza Stark Added reviews for gene CD3D from panel Severe Combined Immunodeficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.39 | CD3D |
Lilian Downie gene: CD3D was added gene: CD3D was added to Genomic newborn screening: ICoNS. Sources: Expert List Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD3D were set to PMID: 38022338, 36944331, 15729559, 16672702, https://doi.org/10.1016/j.jaci.2022.10.022 Phenotypes for gene: CD3D were set to primary immunodeficiency; life-threatening infections: recurrent bacterial/viral/ fungal infections; chronic diarrhoea; recurrent respiratory infections; failure to thrive. Immunologic profile shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype.; OMIM: 186790 Added comment: Gene is in Baby Detect (Liege, Belgium) gene panel Sources: Expert List |
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