(Q38596346)

4 September 2017

Primary Immunodeficiencies Associated with EBV Disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6349415&resulttype=core&format=json

13 May 2020

author name string

Jeffrey I Cohen

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6349415&resulttype=core&format=json

13 May 2020

publication date

1 January 2015

1 reference

Current Topics in Microbiology and Immunology

4 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6349415&resulttype=core&format=json

13 May 2020

volume

390

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6349415&resulttype=core&format=json

13 May 2020

issue

Pt 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6349415&resulttype=core&format=json

13 May 2020

page(s)

241-265

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6349415&resulttype=core&format=json

The phenotype of human STK4 deficiency

13 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Optimal germinal center responses require a multistage T cell:B cell adhesion process involving integrins, SLAM-associated protein, and CD84.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

SLAM family receptors and SAP adaptors in immunity.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Epstein-Barr virus persistence in the absence of conventional memory B cells: IgM+IgD+CD27+ B cells harbor the virus in X-linked lymphoproliferative disease patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Innate immune control of EBV-infected B cells by invariant natural killer T cells

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Characterization and treatment of chronic active Epstein-Barr virus disease: a 28-year experience in the United States

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

SAP is required for generating long-term humoral immunity

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

The adaptor molecule SAP plays essential roles during invariant NKT cell cytotoxicity and lytic synapse formation

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

A human immunodeficiency caused by mutations in the PIK3R1 gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

X-linked lymphoproliferative syndromes: brothers or distant cousins?

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Syntaxin binding mechanism and disease-causing mutations in Munc18-2

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Cellular responses to viral infection in humans: lessons from Epstein-Barr virus.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

CD40 ligand is a critical effector of Epstein-Barr virus in host cell survival and transformation

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Chronic active Epstein-Barr virus infection associated with mutations in perforin that impair its maturation

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

B lymphocytes from patients with a hypomorphic mutation in STAT3 resist Epstein-Barr virus-driven cell proliferation

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

XIAP mediates NOD signaling via interaction with RIP2

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency/X-linked lymphoproliferative disease type 1.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Treatment of primary Epstein-Barr virus infection in patients with X-linked lymphoproliferative disease using B-cell-directed therapy

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Regulation of NKT cell development by SAP, the protein defective in XLP

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

PI3K in lymphocyte development, differentiation and activation

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Variable Phenotypic Expression of an X-Linked Recessive Lymphoproliferative Syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

SAP-controlled T-B cell interactions underlie germinal centre formation

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Congenital B cell lymphocytosis explained by novel germline CARD11 mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Positive and negative signaling through SLAM receptors regulate synapse organization and thresholds of cytolysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

31 March 2020

1 reference

https://api.crossref.org/works/10.1007%2F978-3-319-22822-8_10

Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency.

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26424649

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26424649

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

X-Linked agammaglobulinemia patients are not infected with Epstein-Barr virus: implications for the biology of the virus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26424649

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/978-3-319-22822-8_10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6349415&resulttype=core&format=json

13 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6349415&resulttype=core&format=json

13 May 2020

1 reference