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  • Human CD3D wild-type allele is located within 11q23 and is approximately 4 kb in length. This allele, which encodes T-cell surface glycoprotein CD3 delta chain protein, plays a role in the regulation of signal transduction underlying the developmental transition of immature thymocytes to mature CD4+ or CD8+ T cells. Certain allelic variants of the CD3D gene cause a form of severe combined immunodeficiency (SCID) characterized by the absence of T cells but normal numbers of B cells and NK cells.
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