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
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
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
Lev A et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency.
Nahum A et al.
Clinical Immunology (orlando, Fla.), 2020
First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.
Rechavi E 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
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