Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
CRISPR-Cas9-based gene editing as a proof-of-concept approach in an inborn error of immunity caused by a DCLRE1C variant.
Duran T et al.
Immunologic Research, 2026
Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case.
Musabak U et al.
Case Reports in Immunology, 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
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
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
Case report: Artemis deficiency and 3M syndrome-coexistence of two distinct genetic disorders.
Ceylan A et al.
Frontiers in Pediatrics, 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
Delayed Radiation Myelopathy in a Child With Hodgkin Lymphoma and ARTEMIS Mutation.
Kara B et al.
Journal of Pediatric Hematology/oncology, 2021
Could β-Lactam Antibiotics Block Humoral Immunity?
Melenotte C et al.
Frontiers in Immunology, 2021
Intrauterine detection of DCLRE1C (Artemis) mutation by restriction fragment length polymorphism.
Karaselek MA et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019
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
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Volk T et al.
Human Molecular Genetics, 2015
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