The hyper IgM syndrome--an evolving story (Q35866664)

10 August 2017

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title

The hyper IgM syndrome--an evolving story (English)

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10 August 2017

2

Hans D Ochs

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10 August 2017

Amos Etzioni

1

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PubMed ID

15319456

10 August 2017

language of work or name

English

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publication date

19 August 2004

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10 August 2017

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10 August 2017

56

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10 August 2017

4

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10 August 2017

519-525

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https://scigraph.springernature.com/pub.10.1203/01.pdr.0000139318.65842.4a

10 August 2017

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cites work

Meeting report of the Second International Workshop on Primary Immunodeficiency Disease in Man held in St. Petersburg, Florida, February, 1973.

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Class-switch recombination: after the dawn of AID.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Somatic hypermutation of immunoglobulin genes: merging mechanisms for genetic diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Linking class-switch recombination with somatic hypermutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

The mechanisms of immune diversification and their disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Novel antibody switching defects in human patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Clinical spectrum of X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

The role of CD40 ligand in costimulation and T-cell activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

2 A crystal structure of an extracellular fragment of human CD40 ligand

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

4 Primary immunodeficiency mutation databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Immunologic reconstitution following bone marrow transplantation for X-linked hyper IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

CD40 ligand mutants responsible for X-linked hyper-IgM syndrome associate with wild type CD40 ligand

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Isolation, tissue distribution, and chromosomal localization of the human activation-induced cytidine deaminase (AID) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Activation-induced cytidine deaminase: a dual role in class-switch recombination and somatic hypermutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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/10.1203%2F01.PDR.0000139318.65842.4A

Nuclear and mitochondrial uracil-DNA glycosylases are generated by alternative splicing and transcription from different positions in the UNG gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Nuclear and mitochondrial splice forms of human uracil-DNA glycosylase contain a complex nuclear localisation signal and a strong classical mitochondrial localisation signal, respectively

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Immunoglobulin genes: generating diversity with AID and UNG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Clinical aspects of X-linked hypohidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Finding NEMO: genetic disorders of NF-κB activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

CD40 ligand-transduced co-stimulation of T cells in the development of helper function

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000139318.65842.4A

10.1203/01.PDR.0000139318.65842.4A

21 January 2018

Identifiers

DOI

1 reference

PubMed ID

15319456

Dimensions Publication ID

10 August 2017

0 references

1 reference

PubMed ID

15319456