Associated Papers
Leaky Artemis Deficiency and EBV-Related Lymphoproliferative Disease: A Novel Case and Review of the Literature.
Roussel L et al.
Ejhaem, 2025
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.
Ashton JJ et al.
Clinical and Translational Gastroenterology, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
32373116 (PubMed )
Supplement: Table_2.xlsx › Table_E2_Previously_undiagnosed
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3
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
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 many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.
Lee PP et al.
Clinical Immunology (orlando, Fla.), 2013
Omenn syndrome does not live by V(D)J recombination alone.
Marrella V et al.
Current Opinion in Allergy and Clinical Immunology, 2011
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