Associated Papers
Expanding clinical phenotype of truncating activation-induced cytidine deaminase variants.
Kuipers C et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2025
Insights on SNPs of Human Activation-Induced Cytidine Deaminase AID.
Koveshnikova EA et al.
International Journal of Molecular Sciences, 2025
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome.
Della Mina E et al.
Journal of Clinical Immunology, 2024
Hyper-IgM syndrome resulting from heterozygous AICDA variants: A European first?
Kacar M et al.
Scandinavian Journal of Immunology, 2022
C-terminal deletion-induced condensation sequesters AID from IgH targets in immunodeficiency.
Xie X et al.
The Embo Journal, 2022
A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting.
Dirks J et al.
Journal of Clinical Immunology, 2022
Atypical Autosomal Recessive AID Deficiency-Yet Another Piece of the Hyper-IgM Puzzle.
Della Mina E et al.
Journal of Clinical Immunology, 2022
A novel activation-induced cytidine deaminase mutation in an adult with hyper-immunoglobulin M syndrome.
Mendoza J et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2021
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.
Fadlallah J et al.
The Journal of Pediatrics, 2020
Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants.
Abolhassani H et al.
Clinical Genetics, 2020
Depletion of recombination-specific cofactors by the C-terminal mutant of the activation-induced cytidine deaminase causes the dominant negative effect on class switch recombination.
Al Ismail A et al.
International Immunology, 2017
Activation-induced cytidine deaminase targets SUV4-20-mediated histone H4K20 trimethylation to class-switch recombination sites.
Rodríguez-Cortez VC et al.
Scientific Reports, 2017
Mutations in human AID differentially affect its ability to deaminate cytidine and 5-methylcytidine in ssDNA substrates in vitro.
Budzko L et al.
Scientific Reports, 2017
Targeted AID-mediated mutagenesis (TAM) enables efficient genomic diversification in mammalian cells.
Ma Y et al.
Nature Methods, 2016
Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint.
Cantaert T et al.
The Journal of Clinical Investigation, 2016
C-terminal region of activation-induced cytidine deaminase (AID) is required for efficient class switch recombination and gene conversion.
Sabouri S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome.
Caratão N et al.
Clinical Immunology (orlando, Fla.), 2013
Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome.
Mahdaviani SA et al.
Expert Review of Clinical Immunology, 2012
Immunoglobulin class-switch recombination deficiencies.
Durandy A et al.
Arthritis Research & Therapy, 2012
Inherited defects of immunoglobulin class switch recombination.
Kracker S et al.
Advances in Experimental Medicine and Biology, 2010
Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants.
Durandy A et al.
Human Mutation, 2006
Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.
Imai K et al.
Clinical Immunology (orlando, Fla.), 2005
Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects.
Durandy A et al.
Immunological Reviews, 2005
Hyper-IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase.
Kasahara Y et al.
The Journal of Allergy and Clinical Immunology, 2003
Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase.
Zhu Y et al.
Journal of Medical and Dental Sciences, 2003