Associated Papers
Monogenic disorders of immunity: Common variants are not so rare.
Béziat V et al.
Cell Genomics, 2026
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1
Lentiviral Gene Therapy for Artemis-Deficient SCID.
Cowan MJ et al.
The New England Journal of Medicine, 2022
Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency.
Dvorak CC et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2019
Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID.
Dvorak CC et al.
Bone Marrow Transplantation, 2017
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Dobbs K et al.
Frontiers in Immunology, 2017
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
Felgentreff K et al.
The Journal of Allergy and Clinical Immunology, 2015
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
Pannicke U et al.
Human Mutation, 2010
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