Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, IL2RG

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, IL2RG

Definition : Molecular assay reagents intended to identify mutations in the interleukin 2 receptor, gamma (IL2RG) gene, located at chromosome Xq13.1, which encodes for the protein common gamma chain that partners with other proteins to direct blood-forming cells to form lymphocytes. The receptor also directs the growth and maturation of lymphocyte subtypes: T cells, B cells, and natural killer cells. Mutations at this locus have been identified in patients with X-linked severe combined immunodeficiency (XSCID), also called agammaglobulinemia, Swiss type.

Entry Terms : "Swiss Type Agammaglobulinemia Gene Mutation Reagents" , "Agammaglobulinemia (Swiss Type) Gene Mutation Reagents" , "Severe Combined Immunodeficiency (SCID) Gene Mutation Detection Reagents" , "IL2RG Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, IL2RG"

UMDC code : 24575

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