Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
CTLA4 Alteration and Neurologic Manifestations: A New Family with Large Phenotypic Variability and Literature Review.
Genio E et al.
Genes, 2025
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE et al.
Clinical Immunology (orlando, Fla.), 2024
Characteristics of large granular lymphocyte leukemia associated with variable common immunodeficiency disorders: A study of 12 cases.
Gueuning C et al.
European Journal of Haematology, 2024
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Aykut A et al.
Immunologic Research, 2024
Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series.
Jamee M et al.
Allergologia Et Immunopathologia, 2024
Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.
Wu H et al.
Cancer Communications (london, England), 2022
A Rare Central Nervous System Involvement Due to CTLA-4 Gene Defect.
Rovshanov S et al.
Noro Psikiyatri Arsivi, 2022
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.
Hoshino A et al.
Frontiers in Immunology, 2021
A Patient with CTLA-4 Haploinsufficiency with Multiple Autoimmune Presentations: A Case Report.
Zaremehrjardi F et al.
Iranian Journal of Immunology : Iji, 2020
Immune dysregulation syndrome with de novo CTLA4 germline mutation responsive to abatacept therapy.
Ureshino H et al.
International Journal of Hematology, 2020
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
What did we learn from CTLA-4 insufficiency on the human immune system?
Mitsuiki N et al.
Immunological Reviews, 2019
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Schwab C et al.
The Journal of Allergy and Clinical Immunology, 2018
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.
Le Coz C et al.
Frontiers in Immunology, 2018
Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.
Gambineri E et al.
Frontiers in Immunology, 2018