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
BRAF Gene Fusions in Melanoma: First Kinase Domain Duplication, New Fusion Partners, and Clinical Outcomes.
Odintsov I et al.
The American Journal of Surgical Pathology, 2025
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
Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.
Kuzmenko N et al.
Journal of Clinical Immunology, 2024
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
Technical challenges of intracellular flow cytometry-based assays as a functional complement to diagnosis of signaling defects of inborn errors of immunity: PI3K pathway as a case of study.
Del Pino Molina L et al.
Frontiers in Immunology, 2024
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
Disseminated Mycoplasma Orale Infection in Patients With Phosphoinositide-3-Kinase Regulatory Subunit 1 Mutations.
Totten AH et al.
Open Forum Infectious Diseases, 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
The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).
Fekrvand S et al.
Immunological Investigations, 2022
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
Dimitrova D et al.
The Journal of Allergy and Clinical Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in 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
Clinical Manifestations and Outcomes of Activated Phosphoinositide 3-Kinase δ Syndrome from the USIDNET Cohort.
Oh J et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2021
Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma.
Lee B et al.
Frontiers in Oncology, 2021
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht C et al.
Frontiers in Immunology, 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 and immunological characteristics of a case with activated phosphoinositide 3-kinase δ syndrome 2].
Yang QY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020
Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.
Egan C et al.
Haematologica, 2020
Identification of diverse activating mutations of the RAS-MAPK pathway in histiocytic sarcoma.
Shanmugam V et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
PIK3R1 Mutation Associated with Hyper IgM (APDS2 Syndrome): A Case Report and Review of the Literature.
Yazdani R et al.
Endocrine, Metabolic & Immune Disorders Drug Targets, 2019
Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.
Wang Y et al.
Frontiers in Oncology, 2019
Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.
Karanovic D et al.
Frontiers in Immunology, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
Rudilla F et al.
Frontiers in Immunology, 2019
Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.
Hong Y et al.
Frontiers in Immunology, 2019
2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical 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
2017 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 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
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.
Lougaris V et al.
Clinical Immunology (orlando, Fla.), 2015