Novel Pathogenic Variant in IL2RG Affecting the Signal Peptide Results in mRNA Instability, Decreased IL2RG Expression, and Atypical Late-Onset Immunodeficiency
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X-linked severe combined immunodeficiency (SCID-X1) presents as T-B+NK- SCID, due to mutations in the common γ chain (IL2RG/CD132), a shared component of several cytokine receptors. Without definitive therapy, SCID-X1 i...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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