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Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency

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Published in:Application of Clinical Genetics
Format: Online Article RSS Article
Published: 2025
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container_title Application of Clinical Genetics
description
discipline_display Medical Geneticsx
discipline_facet Medical Geneticsx
format Online Article
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genre Journal Article
id rss_article:62492
institution FRELIP
journal_source_facet Application of Clinical Genetics
last_indexed 2026-06-20T21:27:21.959Z
publishDate 2025
publishDateSort 2025
record_format rss_article
spellingShingle Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
Medical Geneticsx
General
Medical Geneticsx
sub_discipline_display General
sub_discipline_facet General
subject_display Medical Geneticsx
General
Medical Geneticsx
subject_facet Medical Geneticsx
General
Medical Geneticsx
title Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
title_alt Variantes Hemizigóticas de IL2RG Afectan la Fosforilación de STAT5 Inducida por IL-2 y la Actividad Transcripcional Causando Inmunodeficiencia Combinada Grave Ligada al X
Les variants hémizygotes d'IL2RG altèrent la phosphorylation de STAT5 induite par IL-2 et l'activité transcriptionnelle, provoquant un déficit immunitaire combiné sévère lié à l'X
Variantes Hemizigóticas do IL2RG Prejudicam a Fosforilação do STAT5 Induzida por IL-2 e a Atividade Transcricional Causando Imunodeficiência Combinada Grave Ligada ao X
title_auth Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
title_es_txt Variantes Hemizigóticas de IL2RG Afectan la Fosforilación de STAT5 Inducida por IL-2 y la Actividad Transcripcional Causando Inmunodeficiencia Combinada Grave Ligada al X
title_fr_txt Les variants hémizygotes d'IL2RG altèrent la phosphorylation de STAT5 induite par IL-2 et l'activité transcriptionnelle, provoquant un déficit immunitaire combiné sévère lié à l'X
title_full Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
title_fullStr Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
title_full_unstemmed Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
title_pt_txt Variantes Hemizigóticas do IL2RG Prejudicam a Fosforilação do STAT5 Induzida por IL-2 e a Atividade Transcricional Causando Imunodeficiência Combinada Grave Ligada ao X
title_short Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
title_sort hemizygous il2rg variants impair il-2-induced stat5 phosphorylation and transcriptional activity causing x-linked severe combined immunodeficiency
topic Medical Geneticsx
General
Medical Geneticsx
url https://www.dovepress.com/hemizygous-il2rg-variants-impair-il-2-induced-stat5-phosphorylation-an-peer-reviewed-fulltext-article-TACG