Associated Papers
Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2.
Shamriz O et al.
Frontiers in Pediatrics, 2025
Activated PI3Kδ syndrome in inborn errors of immunity: diagnostic strategies and clinical challenges.
Bozkurt S et al.
Frontiers in Immunology, 2025
Role of RNA Alternative Splicing in T Cell Function and Disease.
Banerjee S et al.
Genes, 2023
Disseminated Mycoplasma Orale Infection in Patients With Phosphoinositide-3-Kinase Regulatory Subunit 1 Mutations.
Totten AH et al.
Open Forum Infectious Diseases, 2022
Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.
Venkataramany AS et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2022
Activated Phosphoinositide 3-Kinase δ Syndrome: a Large Pediatric Cohort from a Single Center in China.
Qiu L et al.
Journal of Clinical Immunology, 2022
Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.
Szczawińska-Popłonyk A et al.
Allergologia Et Immunopathologia, 2022
Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia.
Kook HW et al.
Journal of Cancer, 2022
Natural Course of Activated Phosphoinositide 3-Kinase Delta Syndrome in Childhood and Adolescence.
Bloomfield M 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
Treating primary immunodeficiencies with defects in NK cells: from stem cell therapy to gene editing.
Eguizabal C et al.
Stem Cell Research & Therapy, 2020
APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant.
Ramirez L et al.
Journal of Clinical Immunology, 2020
Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.
Asano T et al.
Frontiers in Immunology, 2018
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