(Q44531063)

3 December 2017

title

Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency (English)

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3 December 2017

D Eastwood

1

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3 December 2017

K C Gilmour

2

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3 December 2017

K Nistala

3

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3 December 2017

C Meaney

4

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3 December 2017

H Chapel

5

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3 December 2017

Z Sherrell

6

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3 December 2017

A D Webster

7

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3 December 2017

E G Davies

8

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3 December 2017

A Jones

9

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3 December 2017

H B Gaspar

10

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3 December 2017

publication date

1 September 2004

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Clinical and Experimental Immunology

3 December 2017

published in

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3 December 2017

volume

137

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3 December 2017

issue

3

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3 December 2017

page(s)

584-588

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

3 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.2004.02581.X

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

21 January 2018

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The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2249.2004.02581.X

Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2249.2004.02581.X

An essential role for BLNK in human B cell development

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2249.2004.02581.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.1365-2249.2004.02581.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.1365-2249.2004.02581.X

The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.2004.02581.X

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.2004.02581.X

Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2249.2004.02581.X

NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.2004.02581.X

Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.2004.02581.X

Mutations in the mu heavy-chain gene in patients with agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.2004.02581.X

SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809139

Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809139

Mutations in Igalpha (CD79a) result in a complete block in B-cell development

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809139

X-linked lymphoproliferative disease: twenty-five years after the discovery

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809139

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

29 September 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.2004.02581.X

Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome

21 January 2018

1 reference

12 December 2020

X-linked lymphoproliferative disease: three atypical cases

1 reference

12 December 2020

Common variable immunodeficiency

1 reference

12 December 2020

Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency

1 reference

12 December 2020

Molecular diagnosis of congenital immunodeficiency

1 reference

12 December 2020

10.1111/J.1365-2249.2004.02581.X

Identifiers

DOI

1 reference

3 December 2017

0 references

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