(Q42144554)

17 October 2017

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry (English)

1 reference

X-linked hyper IgM syndrome

17 October 2017

1 reference

P Macchi

1

1 reference

17 October 2017

A Villa

2

1 reference

17 October 2017

D Strina

3

1 reference

17 October 2017

M G Sacco

4

1 reference

17 October 2017

F Morali

5

1 reference

17 October 2017

D Brugnoni

6

1 reference

17 October 2017

S Giliani

7

1 reference

17 October 2017

E Mantuano

8

1 reference

17 October 2017

A Fasth

9

1 reference

17 October 2017

B Andersson

10

1 reference

17 October 2017

language of work or name

English

0 references

publication date

1 April 1995

1 reference

American Journal of Human Genetics

17 October 2017

1 reference

17 October 2017

56

1 reference

17 October 2017

4

1 reference

17 October 2017

898-906

1 reference

Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".

17 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

Human CD40-ligand: molecular cloning, cellular distribution and regulation of expression by factors controlling IgE production

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

Molecular Pathology of X‐Linked Immunoglobulin Deficiency with Normal or Elevated IgM (HIGMX‐1)

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

The CD40 antigen and its ligand

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

Immunodeficiency with hyper-IgM (HIM)

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

The human T cell antigen gp39, a member of the TNF gene family, is a ligand for the CD40 receptor: expression of a soluble form of gp39 with B cell co-stimulatory activity

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

DNA sequencing with chain-terminating inhibitors

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801196

Brief report: prenatal diagnosis of X-linked hyper-IgM syndrome

1 December 2018

1 reference

12 December 2020

Human CD40L Gene Maps between DXS144E and DXS300 in Xq26

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

Identifiers

1 reference

17 October 2017

1 reference