(Q47933540)

6 February 2018

title

Non-functional immunoglobulin G transcripts in a case of hyper-immunoglobulin M syndrome similar to type 4. (English)

1 reference

6 February 2018

author name string

John M Darlow

series ordinal

1

1 reference

6 February 2018

Alex M Farrell

series ordinal

2

1 reference

6 February 2018

David I Stott

series ordinal

3

1 reference

6 February 2018

publication date

1 February 2004

1 reference

6 February 2018

published in

Immunology

1 reference

6 February 2018

volume

111

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6 February 2018

issue

2

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6 February 2018

page(s)

212-222

1 reference

6 February 2018

Common variable immunodeficiency: how many diseases?

cites work

1 reference

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Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.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.0019-2805.2003.01790.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.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.0019-2805.2003.01790.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.0019-2805.2003.01790.X

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.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.0019-2805.2003.01790.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.0019-2805.2003.01790.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

Impaired antibody affinity maturation process characterizes a subset of patients with common variable immunodeficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

Structural organization of the gene for CD40 ligand: molecular analysis for diagnosis of X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

Lymphocyte subsets and specific T-cell immune response in thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

Ig heavy-chain gene revision: leaping towards autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

Role of receptor editing and revision in shaping the B and T lymphocyte repertoire.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

Contribution of Vh gene replacement to the primary B cell repertoire

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

Third complementarity-determining region of mutated VH immunoglobulin genes contains shorter V, D, J, P, and N components than non-mutated genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

Slow, programmed maturation of the immunoglobulin HCDR3 repertoire during the third trimester of fetal life

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1782402

Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1782402

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1782402

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1782402

Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1).

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1782402

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1782402

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1782402

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

26 August 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0019-2805.2003.01790.X

Evidence for a defect in "switch" T cells in patients with immunodeficiency and hyperimmunoglobulinemia M

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15027907

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15027907

12 December 2020

inferred from PubMed ID database lookup

Primary immunodeficiency diseases. Report of a WHO scientific group

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15027907

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1111/J.0019-2805.2003.01790.X

1 reference

6 February 2018

release_xynzdjng7fhpjdyyals3cxf4dq

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xynzdjng7fhpjdyyals3cxf4dq

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1782402

0 references

1 reference

6 February 2018