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Published in 2019 at "Experimental Animals"
DOI: 10.1538/expanim.19-0120
Abstract: X-linked severe combined immunodeficiency (X-SCID) is an inherited genetic disorder. A majority of X-SCID subjects carries point mutations in the Interleukin-2 receptor gamma chain (IL2RG) gene. In contrast, Il2rg-knockout mice recapitulating X-SCID phenotype lack a…
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Keywords:
il2rg;
crispr cas9;
clustered regularly;
knockout mice ... See more keywords
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Published in 2024 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2024.1478411
Abstract: Background Newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved the prognosis of SCID. In Japan, NBS testing (measurement of the T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC)) was launched…
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Keywords:
newborn screening;
variant;
severe combined;
il2rg ... See more keywords