Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Mending RAG2: gene editing for treatment of RAG2 deficiency.
Hicks ED et al.
Blood Advances, 2024
Human T cell generation is restored in CD3δ severe combined immunodeficiency through adenine base editing.
McAuley GE et al.
Cell, 2023
Gene therapy for inborn errors of immunity: Base editing comes into play.
Malech HL et al.
Cell, 2023
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Naturally Occurring Genetic Alterations in Proximal TCR Signaling and Implications for Cancer Immunotherapy.
Kent A et al.
Frontiers in Immunology, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
AIRE expression controls the peripheral selection of autoreactive B cells.
Sng J et al.
Science Immunology, 2019
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
Engelhardt KR et al.
Journal of Clinical Immunology, 2017
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
Recher M et al.
Blood, 2011
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID.
Yu GP et al.
Pediatric Transplantation, 2011
Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.
Strauss KA et al.
Clinical Immunology (orlando, Fla.), 2008
[Expression anomalies of the CD3-TCR complex expression and immunodeficiencies].
Le Deist F et al.
Medecine Sciences : M/s, 2007
CD3 deficiencies.
Fischer A et al.
Current Opinion in Allergy and Clinical Immunology, 2005
Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3.
de Saint Basile G et al.
The Journal of Clinical Investigation, 2004
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