Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase.

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Journal of Medical and Dental Sciences

• Publication date

  2003-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.11480/JMDS.500106PMID 12715918
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Towards an understanding of somatic hypermutation.

  2001cited by this paper
• Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).

  2000cited by this paper
• Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome.

  2000cited by this paper
• A novel cytidine deaminase affects antibody diversity.

  2000cited by this paper
• Specific expression of activation-induced cytidine deaminase (AID) , a novel member of the RNA editing deaminase family in germinal center B cells

  1999cited by this paper
• Identification of Functional Human Splenic Memory B Cells by Expression of CD148 and CD27

  1998cited by this paper
• Absence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndrome.

  1998cited by this paper
• Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

  1998cited by this paper
• Genomic structure and PCR-SSCP analysis of the human CD40 ligand gene: Its application to prenatal screening for X-linked hyper-IgM syndrome

  1996cited by this paper
• The role of CD40 in the regulation of humoral and cell-mediated immunity.

  1994cited by this paper
• CD40 LIGAND MUTATIONS IN X-LINKED IMMUNODEFICIENCY WITH HYPER-IgM

  1994cited by this paper
• The p27 catalytic subunit of the apolipoprotein B mRNA editing enzyme is a cytidine deaminase.

  1993cited by this paper
• Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

  1993cited by this paper
• CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome

  1993cited by this paper
• Immunodeficiency with hyper-IgM (HIM).

  1992cited by this paper
• Use of family specific leader region primers for PCR amplification of the human heavy chain variable region gene repertoire.

  1992cited by this paper
• The repertoire of human germline VH sequences reveals about fifty groups of VH segments with different hypervariable loops.

  1992cited by this paper

• Insights on SNPs of Human Activation-Induced Cytidine Deaminase AID

  2025cites this paper
• Predominantly Antibody Deficiencies

  2021cites this paper
• Unfolding the Role of Splicing Factors and RNA Debranching in AID Mediated Antibody Diversification

  2020cites this paper
• Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.

  2020cites this paper
• Prospects for modulating the CD40/CD40L pathway in the therapy of the hyper-IgM syndrome

  2018cites this paper
• A Severe Anaphylactic Reaction Associated with IgM-Class Anti-Human IgG Antibodies in a Hyper-IgM Syndrome Type 2 Patient

  2017cites this paper
• Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate.

  2016cites this paper
• Somatic Hypermutation: The Molecular Mechanisms Underlying the Production of Effective High-Affinity Antibodies

  2015cites this paper
• Predominant role for activation-induced cytidine deaminase in generating IgG anti-nucleosomal antibodies of murine SLE.

  2015cites this paper
• Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients

  2015cites this paper
• Analysis of somatic hypermutations in the IgM switch region in human B cells.

  2014cites this paper
• A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome.

  2013cites this paper
• Differential gene expression responses distinguish contact and respiratory sensitizers and nonsensitizing irritants in the local lymph node assay.

  2012cites this paper
• The APOBEC3G Deamination Independent

  2012cites this paper
• Investigations into the Targeting and Substrate Specificity of Activation-induced Deaminase

  2012cites this paper
• LINE-1 Retroelements Complexed and Inhibited by Activation Induced Cytidine Deaminase

  2012cites this paper
• AID and Apobec3G haphazard deamination and mutational diversity

  2012cites this paper
• Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome

  2012cites this paper
• A Structural Basis for the Biochemical Behavior of Activation-induced Deoxycytidine Deaminase Class-switch Recombination-defective Hyper-IgM-2 Mutants*

  2012influential citation
• The APOBEC3G Deamination Independent Mode of HIV Inhibition

  2012influential citation
• Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand.

  2011cites this paper
• The mismatch repair pathway functions normally at a non-AID target in germinal center B cells.

  2011cites this paper
• The C Terminus of Activation Induced Cytidine Deaminase (AID) Recruits Proteins Important for Class Switch Recombination to the IG Locus: A Dissertation

  2010cites this paper
• Update on the hyper immunoglobulin M syndromes

  2010cites this paper
• Mechanism of Mismatch Repair Induced Mutagenesis in Somatic Hypermutation

  2010cites this paper
• The dependence of Ig class-switching on the nuclear export sequence of AID likely reflects interaction with factors additional to Crm1 exportin

  2010cites this paper
• Molecular characterization of Pleurodeles waltl activation-induced cytidine deaminase.

  2010cites this paper
• Etude du système immunitaire d'un amphibien et analyse des effets de l'environnement sur sa réponse humorale

  2009cites this paper
• Stochastic properties of processive cytidine DNA deaminases AID and APOBEC3G

  2009influential citation
• APOBEC deaminases-mutases with defensive roles for immunity

  2009cites this paper
• Clinical and Laboratory Findings in Hyper-IgM Syndrome with Novel CD40L and AICDA Mutations

  2009cites this paper
• Impact of Phosphorylation and Phosphorylation-null Mutants on the Activity and Deamination Specificity of Activation-induced Cytidine Deaminase*

  2008cites this paper
• Alternative splicing regulates activation-induced cytidine deaminase (AID): implications for suppression of AID mutagenic activity in normal and malignant B cells.

  2008cites this paper
• Interaction between antibody-diversification enzyme AID and spliceosome-associated factor CTNNBL1.

  2008influential citation
• Haploinsufficiency of Activation-Induced Deaminase for Antibody Diversification and Chromosome Translocations both In Vitro and In Vivo

  2008cites this paper
• Hypermutation at A/T Sites during G·U Mismatch Repair in Vitro by Human B-cell Lysates*

  2008cites this paper
• Predominantly Antibody Deficiencies

  2008cites this paper
• Hypogammaglobulinaemia.

  2008cites this paper
• The Role of Activation-Induced Cytidine Deaminase in Antibody Diversification and B Cell Malignancies

  2007cites this paper
• Discovery of activation-induced cytidine deaminase, the engraver of antibody memory.

  2007cites this paper
• Letter to the Editor

  2006cites this paper
• MDM2 can interact with the C-terminus of AID but it is inessential for antibody diversification in DT40 B cells.

  2006cites this paper
• Evaluation of molecular models for the affinity maturation of antibodies: roles of cytosine deamination by AID and DNA repair.

  2006cites this paper
• The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.

  2005cites this paper
• Hyper‐immunoglobulin M syndromes caused by intrinsic B‐lymphocyte defects

  2005cites this paper
• Identification of the activation-induced cytidine deaminase gene from zebrafish: an evolutionary analysis.

  2005cites this paper
• Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.

  2005cites this paper
• Molecular mechanisms in allergy and clinical immunology

  2005cites this paper
• Class switch recombination: an emerging mechanism.

  2005cites this paper
• Untersuchung der Regulation und Aktivität der DNA-Doppelstrangbruchreparatur in humanen B-Lymphozyten

  2005cites this paper
• Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features

  2005cites this paper
• Common variable immunodeficiency: test indications and interpretations.

  2005cites this paper
• Síndrome de Hiper-IgM en miembros de 2 familias chilenas no relacionadas: Análisis genético-molecular

  2004cites this paper
• A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome

  2004cites this paper
• Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.

  2004cites this paper
• [Hyper-IgM syndrome in members of two unrelated Chilean families: molecular and mutation analysis].

  2004cites this paper
• The role of activation-induced cytidine deaminase in antibody diversification, immunodeficiency, and B-cell malignancies.

  2004cites this paper
• C-terminal deletion of AID uncouples class switch recombination from somatic hypermutation and gene conversion.

  2003cites this paper
• AID mutant analyses indicate requirement for class-switch-specific cofactors

  2003cites this paper