Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects (Q36015017)

11 August 2017

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title

Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects (English)

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11 August 2017

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4

Alain Fischer

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Patrick Revy

object named as

Patrick Revy

series ordinal

2

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Kohsuke Imai

object named as

Kohsuke Imai

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3

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Anne Durandy

object named as

Anne Durandy

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1

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publication date

1 February 2005

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11 August 2017

Immunological Reviews

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11 August 2017

203

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11 August 2017

67-79

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Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

11 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Circular DNA is excised by immunoglobulin class switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Switch circular DNA formed in cytokine-treated mouse splenocytes: evidence for intramolecular DNA deletion in immunoglobulin class switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Circular DNA is a product of the immunoglobulin class switch rearrangement

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Unique and unprecedented recombination mechanisms in class switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Mechanism and control of class-switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Processing of switch transcripts is required for targeting of antibody class switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Activation-induced deaminase (AID)-directed hypermutation in the immunoglobulin Smu region: implication of AID involvement in a common step of class switch recombination and somatic hypermutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

AID is required to initiate Nbs1/gamma-H2AX focus formation and mutations at sites of class switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Palindromic but not G-rich sequences are targets of class switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

R-loops at immunoglobulin class switch regions in the chromosomes of stimulated B cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Transcription-targeted DNA deamination by the AID antibody diversification enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Activation-induced cytidine deaminase deaminates deoxycytidine on single-stranded DNA but requires the action of RNase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Transcription enhances AID-mediated cytidine deamination by exposing single-stranded DNA on the nontemplate strand

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

AID mediates hypermutation by deaminating single stranded DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Variable deletion and duplication at recombination junction ends: implication for staggered double-strand cleavage in class-switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Ku80 is required for immunoglobulin isotype switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Ku70 is required for late B cell development and immunoglobulin heavy chain class switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

DNA-dependent protein kinase activity is not required for immunoglobulin class switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Deficiency in Msh2 affects the efficiency and local sequence specificity of immunoglobulin class-switch recombination: parallels with somatic hypermutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Hot spot focusing of somatic hypermutation in MSH2-deficient mice suggests two stages of mutational targeting

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Reduced isotype switching in splenic B cells from mice deficient in mismatch repair enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Mutation of BCL-6 gene in normal B cells by the process of somatic hypermutation of Ig genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Somatic mutation of the CD95 gene in human B cells as a side-effect of the germinal center reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Clonal selection and learning in the antibody system

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Increased transcription levels induce higher mutation rates in a hypermutating cell line

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

DNA double-strand breaks: prior to but not sufficient in targeting hypermutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Induction of somatic hypermutation in immunoglobulin genes is dependent on DNA polymerase iota.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Somatic hypermutation in the absence of DNA-dependent protein kinase catalytic subunit (DNA-PK(cs)) or recombination-activating gene (RAG)1 activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

The translesion DNA polymerase zeta plays a major role in Ig and bcl-6 somatic hypermutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Mismatch repair co-opted by hypermutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Roles for mismatch repair factors in regulating genetic recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

B-cell activation by T-cell-independent type 2 antigens as an integral part of the humoral immune response to pathogenic microorganisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Human immunoglobulin M memory B cells controlling Streptococcus pneumoniae infections are generated in the spleen

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Molecular cloning of apobec-1 complementation factor, a novel RNA-binding protein involved in the editing of apolipoprotein B mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Activation-induced cytidine deaminase shuttles between nucleus and cytoplasm like apolipoprotein B mRNA editing catalytic polypeptide 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Somatic hypermutation is limited by CRM1-dependent nuclear export of activation-induced deaminase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Activation-induced cytosine deaminase (AID) is actively exported out of the nucleus but retained by the induction of DNA breaks

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Germinal center founder cells display propensity for apoptosis before onset of somatic mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

In situ class switching and differentiation to IgA-producing cells in the gut lamina propria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Critical roles of activation-induced cytidine deaminase in the homeostasis of gut flora

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Human immunoglobulin (Ig)M+IgD+ peripheral blood B cells expressing the CD27 cell surface antigen carry somatically mutated variable region genes: CD27 as a general marker for somatically mutated (memory) B cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

AID mutant analyses indicate requirement for class-switch-specific cofactors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Linking class-switch recombination with somatic hypermutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Molecular mechanism of class switch recombination: linkage with somatic hypermutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

RNA editing enzyme APOBEC1 and some of its homologs can act as DNA mutators

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

In Vitro Deamination of Cytosine to Uracil in Single-stranded DNA by Apolipoprotein B Editing Complex Catalytic Subunit 1 (APOBEC1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

DNA transposition by the RAG1 and RAG2 proteins: a possible source of oncogenic translocations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

The AID enzyme induces class switch recombination in fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

AID enzyme-induced hypermutation in an actively transcribed gene in fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Constitutive expression of AID leads to tumorigenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

What role for AID: mutator, or assembler of the immunoglobulin mutasome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

C-terminal deletion of AID uncouples class switch recombination from somatic hypermutation and gene conversion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Altering the pathway of immunoglobulin hypermutation by inhibiting uracil-DNA glycosylase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Two new isotype-specific switching activities detected for Ig class switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

An Essential Role for BAFF in the Normal Development of B Cells Through a BCMA-Independent Pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

BAFF-R, a newly identified TNF receptor that specifically interacts with BAFF

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

BAFF/BLyS receptor 3 binds the B cell survival factor BAFF ligand through a discrete surface loop and promotes processing of NF-kappaB2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

53BP1 links DNA damage-response pathways to immunoglobulin heavy chain class-switch recombination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

p53 Binding protein 53BP1 is required for DNA damage responses and tumor suppression in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

Decreased Frequency of Somatic Hypermutation and Impaired Affinity Maturation but Intact Germinal Center Formation in Mice Expressing Antisense RNA to DNA Polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

B Cell Receptor Engagement and T Cell Contact Induce bcl-6 Somatic Hypermutation in Human B Cells: Identity with Ig Hypermutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00222.X

10.1111/J.0105-2896.2005.00222.X

21 January 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

PubMed ID

15661022