Associated Papers
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Ochoa S et al.
The Journal of Allergy and Clinical Immunology, 2025
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.
Staudacher O et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
Combined immunodeficiency caused by pathogenic variants in the ZAP70 C-terminal SH2 domain.
Mongellaz C et al.
Frontiers in Immunology, 2023
Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review.
Sharifinejad N et al.
Frontiers in Immunology, 2020
Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada.
Thompson JR et al.
International Journal of Neonatal Screening, 2018
Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency.
Gavino C et al.
The Journal of Allergy and Clinical Immunology, 2017
Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.
Shirkani A et al.
Immunological Investigations, 2017
Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.
Cuvelier GD et al.
Journal of Clinical Immunology, 2016
Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites.
Schroeder ML et al.
Bmc Medical Genetics, 2016
Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency.
Grazioli S et al.
Clinical Immunology (orlando, Fla.), 2014
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