Associated Papers
Investigating Biomarkers for Inborn Errors of Immunity in a Prospective Study of Patients With Autoimmune Cytopenia.
Gaál Z et al.
Pediatric Blood & Cancer, 2026
Association of IgG4-related disease with human inborn errors of immunity.
Batani V et al.
Rheumatology (oxford, England), 2025
Expanding the diagnostic toolbox for complex genetic immune disorders.
Abrams ED et al.
The Journal of Allergy and Clinical Immunology, 2025
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry.
Rojas-Restrepo J et al.
Journal of Clinical Immunology, 2023
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Differences in CD80 and CD86 transendocytosis reveal CD86 as a key target for CTLA-4 immune regulation.
Kennedy A et al.
Nature Immunology, 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J et al.
Frontiers in Immunology, 2021
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
What did we learn from CTLA-4 insufficiency on the human immune system?
Mitsuiki N et al.
Immunological Reviews, 2019
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Schwab C et al.
The Journal of Allergy and Clinical Immunology, 2018
CD 152 gene polymorphisms and risk of osteosarcoma in Chinese population.
Chang Z et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014
Association between CTLA-4 genetic polymorphisms and susceptibility to osteosarcoma in Chinese Han population.
He J et al.
Endocrine, 2014