Articles with "il2rg" as a keyword



Generation of novel Il2rg-knockout mice with clustered regularly interspaced short palindromic repeats (CRISPR) and Cas9

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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… read more here.

Keywords: il2rg; crispr cas9; clustered regularly; knockout mice ... See more keywords

Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant

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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… read more here.

Keywords: newborn screening; variant; severe combined; il2rg ... See more keywords