Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency

Mol* Viewer: modern web app for 3D visualization and analysis of large biomolecular structures

(2021) David Sehnal et al.   NUCLEIC ACIDS RESEARCH

Progressive B Cell Loss in Revertant X-SCID

(2020) Connie H. Lin et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Long-term robustness of a T-cell system emerging from somatic rescue of a genetic block in T-cell development

(2020) Patrick Kury et al.   EBioMedicine

A Multiplex, Droplet Digital PCR Assay for the Detection of T-Cell Receptor Excision Circles and Kappa-Deleting Recombination Excision Circles

(2019) Tracie Profaizer et al.   CLINICAL CHEMISTRY

Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report

(2018) Katja Sonntag et al.   Journal of Translational Medicine

A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype

(2016) Wenjun Mou et al.   IMMUNOGENETICS

IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

(2015) Amy P. Hsu et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

(2015) Yusuke Okuno et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Patients with T+/lowNK+IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency

(2014) Sebastian Fuchs et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells

(2013) T. W. Kuijpers et al.   HAEMATOLOGICA

Multiple Reversions of an IL2RG Mutation Restore T cell Function in an X-linked Severe Combined Immunodeficiency Patient

(2012) Tomoki Kawai et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment

(2011) A. Lev et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Age-matched Reference Values for B-lymphocyte Subpopulations and CVID Classifications in Children

(2011) E. J. H. Schatorjé et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Revertant Mosaicism — Patchwork in the Skin

(2009) Marcel F. Jonkman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency

(2008) C. Speckmann et al.   BLOOD

Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome

(2008) T. Wada et al.   BLOOD