Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.R222S
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IL2RG

NM_000206.3:p.R222S

Associated Papers

A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID.

Dong L et al.

Journal of Clinical Immunology, 2025

Preclinical ex vivo IL2RG gene therapy using autologous hematopoietic stem cells as an effective and safe treatment for X-linked severe combined immunodeficiency disease.

Hu M et al.

Genes & Diseases, 2025

A great disturbance in the force: IL-2 receptor defects disrupt immune homeostasis.

Hernandez JD et al.

Current Opinion in Pediatrics, 2022

A Case of Severe Combined Immunodeficiency Missed by Newborn Screening.

Kitcharoensakkul M et al.

Journal of Clinical Immunology, 2021

Failure of SCID-X1 gene therapy in older patients.

Thrasher AJ et al.

Blood, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."