Associated Papers
The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.
Posadas-Cantera S et al.
Frontiers in Immunology, 2024
Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment.
Boz V et al.
Biomedicines, 2023
Therapeutic gene editing of T cells to correct CTLA-4 insufficiency.
Fox TA et al.
Science Translational Medicine, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J et al.
Frontiers in Immunology, 2021
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
Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity.
Hou TZ et al.
Clinical Immunology (orlando, Fla.), 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
CTLA-4 haploinsufficiency in a patient with an autoimmune lymphoproliferative disorder.
Kucuk ZY et al.
The Journal of Allergy and Clinical 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
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