(Q33947934)

30 July 2017

title

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

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30 July 2017

Ferrari S

1

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30 July 2017

Giliani S

2

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30 July 2017

Insalaco A

3

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30 July 2017

Al-Ghonaium A

4

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30 July 2017

Soresina AR

5

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30 July 2017

Loubser M

6

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30 July 2017

Avanzini MA

7

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30 July 2017

Marconi M

8

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30 July 2017

Badolato R

9

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30 July 2017

Ugazio AG

10

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30 July 2017

Levy Y

11

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30 July 2017

Catalan N

12

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30 July 2017

Durandy A

13

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30 July 2017

Tbakhi A

14

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30 July 2017

Notarangelo LD

15

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30 July 2017

Plebani A

16

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30 July 2017

language of work or name

English

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publication date

1 October 2001

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Proceedings of the National Academy of Sciences of the United States of America

30 July 2017

published in

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30 July 2017

volume

98

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30 July 2017

issue

22

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30 July 2017

page(s)

12614-12619

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The TNF and TNF receptor superfamilies: integrating mammalian biology

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

Regulation of CD40 function by its isoforms generated through alternative splicing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

Absence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

The SR protein family: pleiotropic functions in pre-mRNA splicing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

CD40 and its ligand in host defense

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

The immune responses in CD40-deficient mice: impaired immunoglobulin class switching and germinal center formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

CD40-deficient mice generated by recombination-activating gene-2-deficient blastocyst complementation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

Hyper IgM syndrome associated with defective CD40-mediated B cell activation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

The Role of CD40 and its Ligand in the Regulation of the Immune Response

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

The CD40 antigen and its ligand

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

gp39-CD40 interactions are essential for germinal center formation and the development of B cell memory

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

Immunodeficiency with hyper-IgM (HIM)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

CD40 Ligand Gene Defects Responsible for X-Linked Hyper-IgM Syndrome

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=60102

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

29 October 2018

1 reference

12 December 2020

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

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

Induction by anti-CD40 antibody or soluble CD40 ligand and cytokines of IgG, IgA and IgE production by B cells from patients with X-linked hyper IgM syndrome

1 reference

12 December 2020

CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers

1 reference

12 December 2020

Mice deficient for the CD40 ligand

1 reference

12 December 2020

CD40 ligand is required for resolution of Pneumocystis carinii pneumonia in mice

1 reference

12 December 2020

Impaired T cell-mediated macrophage activation in CD40 ligand-deficient mice

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.221456898

1 reference

30 July 2017

0 references

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30 July 2017

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