Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients (Q24291489)

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9 November 2019

title

Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients (English)

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9 November 2019

2

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9 November 2019

Margarita Martín

3

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9 November 2019

Olin K. Silander

6

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9 November 2019

Pablo Engel

12

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9 November 2019

author name string

M Morra

1

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9 November 2019

A S Chen

4

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9 November 2019

A Lanyi

5

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9 November 2019

S Calpe

7

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9 November 2019

J Davis

8

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9 November 2019

T Pawson

9

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9 November 2019

M J Eck

10

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9 November 2019

J Sumegi

11

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9 November 2019

S C Li

13

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9 November 2019

C Terhorst

14

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language of work or name

English

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publication date

26 July 2001

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Journal of Biological Chemistry

9 November 2019

published in

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9 November 2019

volume

276

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9 November 2019

page(s)

36809-36816

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9 November 2019

issue

39

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X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)

9 November 2019

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

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The abnormal gene in X-linked lymphoproliferative syndrome

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The gene defective in X-linked lymphoproliferative disease controls T cell dependent immune surveillance against Epstein-Barr virus

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X-linked lymphoproliferative disease: a progressive immunodeficiency

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X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein

21 January 2018

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Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease

21 January 2018

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Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection

21 January 2018

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Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)

21 January 2018

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X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells

21 January 2018

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Cutting Edge: Defective NK Cell Activation in X-Linked Lymphoproliferative Disease

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Functional requirement for SAP in 2B4-mediated activation of human natural killer cells as revealed by the X-linked lymphoproliferative syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Potential pathways for regulation of NK and T cell responses: differential X-linked lymphoproliferative syndrome gene product SAP interactions with SLAM and 2B4.

21 January 2018

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Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP

21 January 2018

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Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family

21 January 2018

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CD150 is a member of a family of genes that encode glycoproteins on the surface of hematopoietic cells.

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SLAM and its role in T cell activation and Th cell responses

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A novel receptor involved in T-cell activation

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SLAM (CDw150) is a cellular receptor for measles virus

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2B4: an NK cell activating receptor with unique specificity and signal transduction mechanism

21 January 2018

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2B4, the natural killer and T cell immunoglobulin superfamily surface protein, is a ligand for CD48

21 January 2018

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The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B

21 January 2018

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Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition

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Novel mode of ligand binding by the SH2 domain of the human XLP disease gene product SAP/SH2D1A

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