Associated Papers
Association of paediatric autoimmune cytopenia and inflammatory bowel disease suggests a common genetic origin.
Gilton M et al.
British Journal of Haematology, 2024
Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.
Xu X et al.
Journal of Clinical Immunology, 2024
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
Case Report: Aplastic anemia related to a novel CTLA4 variant.
Hall G et al.
Frontiers in Pediatrics, 2024
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Liu F et al.
Signal Transduction and Targeted Therapy, 2021
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
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.
Hoshino A et al.
Frontiers in Immunology, 2021
Myeleterosis in an ALPS5 patient with primary immune dysregulation syndrome.
Long H et al.
Cns Neuroscience & Therapeutics, 2020
Two neurologic facets of CTLA4-related haploinsufficiency.
Ayrignac X et al.
Neurology(r) Neuroimmunology & Neuroinflammation, 2020
Germline Predisposition to Hematolymphoid Neoplasia.
Weinberg OK et al.
American Journal of Clinical Pathology, 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
Clinical Challenges: Identification of Patients With Novel Primary Immunodeficiency Syndromes.
Buchbinder D et al.
Journal of Pediatric Hematology/oncology, 2018
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.
Besnard C et al.
Clinical Immunology (orlando, Fla.), 2018
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G 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
A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.
Hayakawa S et al.
Journal of Clinical Immunology, 2016
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.
Kuehn HS et al.
Science (new York, N.y.), 2014
Lymphocytic Colitis With Increased Apoptosis: A Marker of Mutation in T-Cell-Mediated Immunity?
Bernieh A et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0