Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.L87P
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IL2RG

NM_000206.3:p.L87P

Associated Papers

Reconstitution of Norovirus-Specific T-Cell Responses Following Hematopoietic Stem Cell Transplantation in Patients With Inborn Errors of Immunity and Chronic Norovirus Infection.

Durkee-Shock J et al.

The Journal of Infectious Diseases, 2025

Reversion Mosaicism in Primary Immunodeficiency Diseases.

Miyazawa H et al.

Frontiers in Immunology, 2021

The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.

Arcas-García A et al.

Clinical and Experimental Immunology, 2020

Mutation Analysis of Three Infantile Cases of X-linked Severe Combined Immunodeficiency.

Yu C et al.

Clinical Laboratory, 2020

Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.

Okuno Y et al.

Journal of Clinical Immunology, 2015

IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.

Hsu AP et al.

Journal of Clinical Immunology, 2015

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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."