Associated Papers
CTLA4 Alteration and Neurologic Manifestations: A New Family with Large Phenotypic Variability and Literature Review.
Genio E et al.
Genes, 2025
Expanding the diagnostic toolbox for complex genetic immune disorders.
Abrams ED et al.
The Journal of Allergy and Clinical Immunology, 2025
Severe atopic dermatitis treated with Dupilumab in a CTLA-4-deficient patient: A case report and review of the literature.
Park YJ et al.
Sage Open Medical Case Reports, 2025
A Nationwide Study of the Delayed Diagnosis and the Clinical Manifestations of Predominantly Antibody Deficiencies and CTLA4-Mediated Immune Dysregulation Syndrome in Greece.
Kapousouzi A et al.
Medicina (kaunas, Lithuania), 2024
The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.
Posadas-Cantera S et al.
Frontiers in Immunology, 2024
DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency.
Turnbull C et al.
Science Advances, 2023
Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry.
Rojas-Restrepo J et al.
Journal of Clinical Immunology, 2023
Insilico prediction and functional analysis of nonsynonymous SNPs in human CTLA4 gene.
Irfan M et al.
Scientific Reports, 2022
Differences in CD80 and CD86 transendocytosis reveal CD86 as a key target for CTLA-4 immune regulation.
Kennedy A et al.
Nature Immunology, 2022
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK et al.
The Journal of Allergy and Clinical Immunology, 2022
Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?
Krausz M et al.
Frontiers in Immunology, 2022
The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay.
Kelaidi C et al.
Familial Cancer, 2021
Rituximab and antimetabolite treatment of granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency.
Verbsky JW et al.
The Journal of Allergy and Clinical Immunology, 2021
What did we learn from CTLA-4 insufficiency on the human immune system?
Mitsuiki N et al.
Immunological Reviews, 2019
CTLA4 Message Reflects Pathway Disruption in Monogenic Disorders and Under Therapeutic Blockade.
Garcia-Perez JE et al.
Frontiers in Immunology, 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
Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers.
Egg D et al.
Frontiers in Immunology, 2018
Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations.
Verma N et al.
Clinical and Experimental Immunology, 2017
CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.
Lo B et al.
Blood, 2016
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
Schubert D et al.
Nature Medicine, 2014