Associated Papers
Leaky Artemis Deficiency and EBV-Related Lymphoproliferative Disease: A Novel Case and Review of the Literature.
Roussel L et al.
Ejhaem, 2025
Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.
Hazar E et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2024
Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.
Meric Z et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2024
Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene.
Ghadimi S et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023
A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review.
Zhang X et al.
Frontiers in Oncology, 2023
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2
Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas.
Fevang B et al.
Case Reports in Immunology, 2018
Autoinhibition of the Nuclease ARTEMIS Is Mediated by a Physical Interaction between Its Catalytic and C-terminal Domains.
Niewolik D et al.
The Journal of Biological Chemistry, 2017
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
Pannicke U et al.
Human Mutation, 2010
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