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
Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years.
Booth NA et al.
Journal of Clinical Immunology, 2022
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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