(Q38152266)

29 August 2017

title

Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients (English)

1 reference

29 August 2017

1 reference

1 reference

13

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Bandar K Al-Saud

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Zobaida Al-Sum

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Hanadi Alassiri

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Abdulaziz Al-Ghonaium

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Saleh Al-Muhsen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Hasan Al-Dhekri

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Rand Arnaout

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Osama Alsmadi

8

1 reference

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1 June 2020

Esteban Borrero

9

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1 June 2020

Asm'a Abu-Staiteh

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Faisal Rawas

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Hamoud Al-Mousa

12

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1 June 2020

publication date

1 November 2013

1 reference

Journal of Clinical Immunology

29 August 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

33

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1 June 2020

issue

8

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1 June 2020

page(s)

1325-1335

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

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

1 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

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/10.1007%2FS10875-013-9951-9

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/10.1007%2FS10875-013-9951-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

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/10.1007%2FS10875-013-9951-9

Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

Toll-like receptors and B-cell receptors synergize to induce immunoglobulin class-switch DNA recombination: relevance to microbial antibody responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

A new mechanism of NK cell cytotoxicity activation: the CD40-CD40 ligand interaction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

The TNF and TNF receptor superfamilies: integrating mammalian biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

Clinical spectrum of X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

Functional defects of dendritic cells in patients with CD40 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9951-9

A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency

21 January 2018

1 reference

12 December 2020

Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China

1 reference

12 December 2020

Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers

1 reference

12 December 2020

Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency

1 reference

12 December 2020

Recurrent bacterial infections and dysgamma-globulinemia: deficiency of 7S gamma-globulins in the presence of elevated 19S gamma-globulins. Report of two cases

1 reference

12 December 2020

First report of successful stem cell transplantation in a child with CD40 deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

[An example of atypical agammaglobulinemia (a case of severe hypogammaglobulinemia with increase of the beta-2 macroglobulin.]

1 reference

12 December 2020

Consanguinity and major genetic disorders in Saudi children: a community-based cross-sectional study.

1 reference

12 December 2020

10.1007/S10875-013-9951-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

1 June 2020

1047816762

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24122029%20AND%20SRC:MED&resulttype=core&format=json