Associated Papers
Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.
Xu X et al.
Journal of Clinical Immunology, 2024
Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells.
Staniek J et al.
Science Immunology, 2024
38215192 (PubMed )
Supplement: sciimmunol.adj5948_sm.pdf
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
Pellé O et al.
The Journal of Allergy and Clinical Immunology, 2024
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
Rensing-Ehl A et al.
The Journal of Allergy and Clinical Immunology, 2024
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
Autoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.
Paskiewicz A et al.
Autoimmunity Reviews, 2023
Genome-wide detection of human variants that disrupt intronic branchpoints.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
36306325 (PubMed )
Supplement: pnas.2211194119.sd04.xlsx › BPHunter_pathogenic_BP_variants
The genetic landscape of the FAS pathway deficiencies.
Magerus A et al.
Biomedical Journal, 2021
Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.
Ben-Mustapha I et al.
Journal of Leukocyte Biology, 2018
Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome.
Agrebi N et al.
Clinical Immunology (orlando, Fla.), 2017
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.
Hsu AP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Select a paper to view details