(Q35108519)

6 August 2017

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination (English)

1 reference

hyper-IgM syndrome type 4

6 August 2017

1 reference

11

1 reference

6 August 2017

14

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Patrick Revy

object named as

Patrick Revy

13

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Anne Durandy

object named as

Anne Durandy

15

0 references

Alessandro Plebani

3

object named as

Alessandro Plebani

1 reference

6 August 2017

5

Ozden Sanal

1 reference

6 August 2017

12

Monique Forveille

1 reference

6 August 2017

9

Catherine Glastre

1 reference

6 August 2017

2

Nadia Catalan

1 reference

6 August 2017

1

Kohsuke Imai

1 reference

6 August 2017

László Maródi

4

1 reference

6 August 2017

Satoru Kumaki

6

1 reference

6 August 2017

Vasantha Nagendran

7

1 reference

6 August 2017

Philip Wood

8

1 reference

6 August 2017

Françoise Sarrot-Reynauld

10

1 reference

6 August 2017

language of work or name

English

0 references

publication date

1 July 2003

1 reference

Journal of Clinical Investigation

6 August 2017

1 reference

6 August 2017

112

1 reference

6 August 2017

136-142

1 reference

6 August 2017

1

1 reference

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

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

AID and mismatch repair in antibody diversification

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

AID-dependent somatic hypermutation occurs as a DNA single-strand event in the BL2 cell line

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Role for mismatch repair proteins Msh2, Mlh1, and Pms2 in immunoglobulin class switching shown by sequence analysis of recombination junctions

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Human genetic defects in class-switch recombination (hyper-IgM syndromes).

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Cell-cycle-regulated DNA double-stranded breaks in somatic hypermutation of immunoglobulin genes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Somatic hypermutation in MutS homologue (MSH)3-, MSH6-, and MSH3/MSH6-deficient mice reveals a role for the MSH2-MSH6 heterodimer in modulating the base substitution pattern

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Ku80 is required for immunoglobulin isotype switching

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

The SCID but not the RAG-2 gene product is required for S mu-S epsilon heavy chain class switching.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Activated B cells from patients with common variable immunodeficiency proliferate and synthesize immunoglobulin

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

The CD40 antigen and its ligand

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

The activation-induced deaminase functions in a postcleavage step of the somatic hypermutation process

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Sequence variation in the human uracil-DNA glycosylase (UNG) gene

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Common variable immunodeficiency: clinical and immunological features of 248 patients.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=162294

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

27 September 2018

1 reference

12 December 2020

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

1 reference

12 December 2020

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

1 reference

12 December 2020

Ig Sgamma3 DNA-specifc double strand breaks are induced in mitogen-activated B cells and are implicated in switch recombination

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI18161

1 reference

6 August 2017

1 reference

6 August 2017

1 reference