Associated Papers
Functional insights of an uncommon hypomorphic variant in IL2RG as a monogenic cause of CVID-like disease with antibody deficiency and T CD4 lymphopenia.
González-Torbay A et al.
Frontiers in Immunology, 2025
Reversion Mosaicism in Primary Immunodeficiency Diseases.
Miyazawa H et al.
Frontiers in Immunology, 2021
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Tuovinen EA et al.
Journal of Clinical Immunology, 2020
Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies.
Kojima D et al.
The Journal of Allergy and Clinical Immunology, 2016
Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.
Okuno Y et al.
Journal of Clinical Immunology, 2015
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