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
Overlapping Clinical Phenotypes in Patients With Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.
Van DA et al.
Pediatrics, 2025
Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment.
Walsh ZH et al.
Cell, 2025
Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.
Shapiro AJ et al.
The Journal of Pediatrics, 2025
Mapping variant effects on anti-tumor hallmarks of primary human T cells with base-editing screens.
Walsh ZH et al.
Nature Biotechnology, 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
A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects.
Bildik HN et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2024
Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity.
Li Q et al.
Journal of Clinical Immunology, 2024
Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype.
Zhao P et al.
Pediatric Rheumatology Online Journal, 2024
Base-editing mutagenesis maps alleles to tune human T cell functions.
Schmidt R et al.
Nature, 2024
Massively parallel base editing screens to map variant effects on anti-tumor hallmarks of primary human T cells.
Walsh ZH et al.
Biorxiv : the Preprint Server for Biology, 2023
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME et al.
The Journal of Allergy and Clinical Immunology, 2023
T-follicular helper cell expansion and chronic T-cell activation are characteristic immune anomalies in Evans syndrome.
Kumar D et al.
Blood, 2022
Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report.
Zhang X et al.
The Journal of International Medical Research, 2021
Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant.
Marzollo A et al.
Frontiers in Pediatrics, 2021