Associated Papers
Clinical and genetic findings of individuals tested using the navigateAPDS genetic testing program.
Campbell E et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2026
Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2.
Shamriz O et al.
Frontiers in Pediatrics, 2025
Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.
Barzaghi F et al.
Journal of Clinical Immunology, 2024
From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia
Fernandes Pineda M et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2024
Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report.
Fernandes-Pineda M et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2024
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
Segura-Tudela A et al.
Journal of Clinical Immunology, 2024
Role of RNA Alternative Splicing in T Cell Function and Disease.
Banerjee S et al.
Genes, 2023
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.
Nguyen HT et al.
Frontiers in Oncology, 2022
Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.
Ye Y et al.
Experimental Hematology & Oncology, 2021
Case Report: EBV Chronic Infection and Lymphoproliferation in Four APDS Patients: The Challenge of Proper Characterization, Therapy, and Follow-Up.
Rivalta B et al.
Frontiers in Pediatrics, 2021
Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.
Jamee M et al.
Clinical Reviews in Allergy & Immunology, 2020
APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant.
Ramirez L et al.
Journal of Clinical Immunology, 2020
Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels.
Gallo V et al.
Journal of Clinical Medicine, 2020
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2018
Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.
Asano T et al.
Frontiers in Immunology, 2018
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
Bravo García-Morato M et al.
Clinical Immunology (orlando, Fla.), 2017
Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature.
Olbrich P et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2016
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.
Petrovski S et al.
Journal of Clinical Immunology, 2016
Reduced germinal center follicular helper T cells but normal follicular regulatory T cells in the tonsils of a patient with a mutation in the PI3KR1 gene.
Di Fonte R et al.
Clinical Immunology (orlando, Fla.), 2016
Loss of heterozygosity: what is it good for?
Ryland GL et al.
Bmc Medical Genomics, 2015