Associated Papers
A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.
Akarsu A et al.
Scandinavian Journal of Immunology, 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
Activation-induced cytidine deaminase targets SUV4-20-mediated histone H4K20 trimethylation to class-switch recombination sites.
Rodríguez-Cortez VC et al.
Scientific Reports, 2017
Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland.
Trotta L et al.
European Journal of Human Genetics : Ejhg, 2016
AID and Apobec3G haphazard deamination and mutational diversity.
Jaszczur M et al.
Cellular and Molecular Life Sciences : Cmls, 2013
Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans.
Durandy A et al.
Autoimmunity, 2013
A structural basis for the biochemical behavior of activation-induced deoxycytidine deaminase class-switch recombination-defective hyper-IgM-2 mutants.
Mu Y et al.
The Journal of Biological Chemistry, 2012
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
Activation-induced cytidine deaminase splice variants are defective because of the lack of structural support for the catalytic site.
van Maldegem F et al.
Journal of Immunology (baltimore, Md. : 1950), 2010
Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants.
Durandy A et al.
Human Mutation, 2006
AID mutant analyses indicate requirement for class-switch-specific cofactors.
Ta VT et al.
Nature Immunology, 2003
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Revy P et al.
Cell, 2000
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