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
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Overlapping Clinical Phenotypes in Patients With Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.
Van DA et al.
Pediatrics, 2025
A rare case report of activated PI3K delta syndrome (APDS): diagnostic pitfalls.
Ahmad Shawaludin MQ et al.
Bmc Pediatrics, 2025
Precision Medicine in Pediatric Autoimmunity: Leniolisib Treatment of Childhood-Onset Lupus Nephritis Due to Activated Phosphoinositide 3-Kinase δ Syndrome.
Lim JP et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.
Li Y et al.
British Journal of Haematology, 2025
PI3Kdelta-driven expansion of regulatory B cells impairs protective immune responses to Trypanosoma congolense parasite infection.
Olayinka-Adefemi F et al.
Plos Pathogens, 2025
PI3K GOF leads to dysregulation of T and B cells that both contribute to extrinsically driving activation and differentiation of other CD4+ T cells.
Bier J et al.
Immunology and Cell Biology, 2025
Senescent B cells regulate CD38 expression via FOXO1 in pneumonia resulting from PIK3CD (R437C) mutations.
Liu J et al.
Life Medicine, 2025
A gain-of-function PIK3CD variant, R512W, impairs T cell function through polyamine-dependent metabolic dysregulation.
Kiyota K et al.
Biochemical and Biophysical Research Communications, 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
Clonal relationship between juvenile xanthogranuloma and juvenile myelomonocytic leukaemia: insights from a PTPN11 missense variant.
Kobal I et al.
Clinical and Experimental Dermatology, 2025
Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1).
Wonnaparhown A et al.
The Journal of Allergy and Clinical Immunology. Global, 2025
Activated PI3K Delta Syndrome: A Case Presentation and Literature Review.
López Méndez A et al.
Cureus, 2025
Activated PI3 Kinase Delta Syndrome: Molecular Pathogenesis and Emerging Therapeutics.
Alraqibah EA
Cureus, 2025
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 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
Genetic evolution and relapse-associated mutations in adult T-cell acute lymphoblastic leukemia patients treated in PETHEMA trials.
González-Gil C et al.
Hemasphere, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Listeria Meningitis as an Indication of Undiagnosed Primary Immune Deficiency, Activated Phosphoinositide 3-Kinase Delta Syndrome: A Case Report.
Canizci Erdemli P et al.
The Pediatric Infectious Disease Journal, 2025
Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2.
Shamriz O et al.
Frontiers in Pediatrics, 2025
Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry.
Esposto MP et al.
Frontiers in Immunology, 2025
EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review.
Xiang QY et al.
Frontiers in Immunology, 2025
Activated PI3K-δ syndrome presenting with cervical lymphadenopathy in a pediatric patient: a case report and review of the literature.
Huang Z et al.
Frontiers in Immunology, 2025
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 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
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.
Vos N et al.
European Journal of Human Genetics : Ejhg, 2024
LASSO-derived nomogram for early identification of pediatric monogenic lupus.
Zhang TY et al.
World Journal of Pediatrics : Wjp, 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
Clinical features and lymphocyte immunophenotyping analysis in primary immunodeficiency patients with non-transplant lymphoproliferative disorders.
Lee WI et al.
Clinical Immunology (orlando, Fla.), 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 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
Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients: Dutch iTHER study experience.
Boer JM et al.
Hemasphere, 2024
Establishment of a non-integrated iPSC (SDQLCHi068-A) line derived from a patient with autosomal dominant immunodeficiency-14A carrying a heterozygous mutation (c.3061G>A) in PIK3CD gene.
Xin H et al.
Stem Cell Research, 2024
B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
Khoshnevisan R et al.
Immunogenetics, 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
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.
Yeo NK et al.
Frontiers in Genetics, 2024
Case report on activated PI3K-delta syndrome.
Crisanto-López IE et al.
Boletin Medico Del Hospital Infantil De Mexico, 2024
Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome.
Orellana H et al.
Frontiers in Immunology, 2024
Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series.
Jamee M et al.
Allergologia Et Immunopathologia, 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
Case Report: Early-onset or recalcitrant cytopenias as presenting manifestations of activated PI3Kδ syndrome.
Remiker AS et al.
Frontiers in Pediatrics, 2024
Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives.
IJspeert H et al.
Immunotherapy Advances, 2024
Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correction.
Poggi L et al.
Molecular Therapy. Methods & Clinical Development, 2023