Varaico: Literature-Extracted Genetic Variants

Gene:IL2RA
Variant:p.Y41S
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IL2RA

NM_000417.3:p.Y41S

Associated Papers

Expanding the clinical spectrum of interleukin-2 receptor alpha chain deficiency: two novel cases with long-term hematopoietic stem cell transplantation outcome and literature review.

Alzubedy M et al.

Frontiers in Immunology, 2026

Case Report: IL2RA (CD25) deficiency: first reported cases in Morocco.

Elamine A et al.

Frontiers in Immunology, 2026

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.

Lu D et al.

Orphanet Journal of Rare Diseases, 2020

Immune Monitoring of Patients With Primary Immune Regulation Disorders Unravels Higher Frequencies of Follicular T Cells With Different Profiles That Associate With Alterations in B Cell Subsets.

Caldirola MS et al.

Frontiers in Immunology, 2020

Primary Immunodeficiencies Unravel the Role of IL-2/CD25/STAT5b in Human Natural Killer Cell Maturation.

Caldirola MS et al.

Frontiers in Immunology, 2018

[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].

Han F et al.

Zhonghua Yi Xue Za Zhi, 2014

Follicular bronchiolitis as phenotype associated with CD25 deficiency.

Bezrodnik L et al.

Clinical and Experimental Immunology, 2014

[Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].

Wang Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

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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."