Genetic Causes of Human NK Cell Deficiency and Their Effect on NK Cell Subsets (Q28067993)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994588 AND SRC:MED&resulttype=core&format=json

30 March 2020

title

Genetic Causes of Human NK Cell Deficiency and Their Effect on NK Cell Subsets (English)

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994588 AND SRC:MED&resulttype=core&format=json

30 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994588 AND SRC:MED&resulttype=core&format=json

30 March 2020

author name string

Jordan S Orange

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994588 AND SRC:MED&resulttype=core&format=json

30 March 2020

language of work or name

1 reference

2 December 2016

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994588 AND SRC:MED&resulttype=core&format=json

30 March 2020

published in

Frontiers in Immunology

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994588 AND SRC:MED&resulttype=core&format=json

30 March 2020

volume

7

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994588 AND SRC:MED&resulttype=core&format=json

30 March 2020

page(s)

545

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994588 AND SRC:MED&resulttype=core&format=json

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

30 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

A gene atlas of the mouse and human protein-encoding transcriptomes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

GATA Switches as Developmental Drivers

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Cytotoxicity of CD56(bright) NK cells towards autologous activated CD4 T cells is mediated through NKG2D, LFA-1 and TRAIL and dampened via CD94/NKG2A

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

GATA2 regulates dendritic cell differentiation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Critical Role of CD2 Co-stimulation in Adaptive Natural Killer Cell Responses Revealed in NKG2C-Deficient Humans.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Natural killer cell biology illuminated by primary immunodeficiency syndromes in humans.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Human NK cell repertoire diversity reflects immune experience and correlates with viral susceptibility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Cytomegalovirus infection drives adaptive epigenetic diversification of NK cells with altered signaling and effector function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Epigenetic modification and antibody-dependent expansion of memory-like NK cells in human cytomegalovirus-infected individuals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Clonal tracking of rhesus macaque hematopoiesis highlights a distinct lineage origin for natural killer cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Human immunodeficiency syndromes affecting human natural killer cell cytolytic activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

The evolution of cellular deficiency in GATA2 mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Genetic and environmental determinants of human NK cell diversity revealed by mass cytometry

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

An expression atlas of human primary cells: inference of gene function from coexpression networks

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Natural killer cell deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Cutting edge: antibody-dependent memory-like NK cells distinguished by FcRγ deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Unraveling human natural killer cell deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Cytomegalovirus reactivation after allogeneic transplantation promotes a lasting increase in educated NKG2C natural killer cells with potent function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Unconventional repertoire profile is imprinted during acute chikungunya infection for natural killer cells polarization toward cytotoxicity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

IRF8 mutations and human dendritic-cell immunodeficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Human NK cells proliferate and die in vivo more rapidly than T cells in healthy young and elderly adults

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Revisiting human natural killer cell subset function revealed cytolytic CD56(dim)CD16 NK cells as rapid producers of abundant IFN-gamma on activation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Rapid expansion and long-term persistence of elevated NK cell numbers in humans infected with hantavirus.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Structural biology of MCM helicases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

The human GINS complex associates with Cdc45 and MCM and is essential for DNA replication

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

High GATA-2 expression inhibits human hematopoietic stem and progenitor cell function by effects on cell cycle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

IL-15 trans-presentation promotes human NK cell development and differentiation in vivo

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

CD56bright human NK cells differentiate into CD56dim cells: role of contact with peripheral fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

A subpopulation of human peripheral blood NK cells that lacks inhibitory receptors for self-MHC is developmentally immature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Human natural killer cell deficiencies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Expansion of CD94/NKG2C NK cells in response to human cytomegalovirus-infected fibroblasts.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Pathogenesis of murine cytomegalovirus infection in natural killer cell-depleted mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Practical NK cell phenotyping and variability in healthy adults

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Cytomegalovirus-seropositive children show inhibition of in vitro EBV infection that is associated with CD8 CD57 T cell enrichment and IFN-γ.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

CMV drives clonal expansion of NKG2C NK cells expressing self-specific KIRs in chronic hepatitis patients.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

NKG2C NK cells are enriched in AIDS patients with advanced-stage Kaposi's sarcoma

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

A non-X-linked syndrome with susceptibility to severe epstein-barr virus infections

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Natural killer (NK) cell response to virus infections in mice with severe combined immunodeficiency. The stimulation of NK cells and the NK cell-dependent control of virus infections occur independently of T and B cell function

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II)

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5133264

Expansion of functionally skewed CD56-negative NK cells in chronic hepatitis C virus infection: correlation with outcome of pegylated IFN-alpha and ribavirin treatment

28 July 2018

1 reference

https://api.crossref.org/works/10.3389/FIMMU.2016.00545

CD56 negative NK cells: origin, function, and role in chronic viral disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FIMMU.2016.00545

Imprint of human cytomegalovirus infection on the NK cell receptor repertoire

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FIMMU.2016.00545

Chronic HIV-1 viremia reverses NKG2A/NKG2C ratio on natural killer cells in patients with human cytomegalovirus co-infection.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FIMMU.2016.00545

CD56brightCD16- killer Ig-like receptor- NK cells display longer telomeres and acquire features of CD56dim NK cells upon activation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FIMMU.2016.00545

Severe herpesvirus infections in an adolescent without natural killer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FIMMU.2016.00545

A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FIMMU.2016.00545

A viable allele of Mcm4 causes chromosome instability and mammary adenocarcinomas in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FIMMU.2016.00545

Fatal varicella associated with selective natural killer cell deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FIMMU.2016.00545

A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FIMMU.2016.00545

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

21 January 2018

1 reference

12 December 2020

An unusual CD56(bright) CD16(low) NK cell subset dominates the early posttransplant period following HLA-matched hematopoietic stem cell transplantation

1 reference

12 December 2020

Natural killer cell immunodeficiency in HIV disease is manifest by profoundly decreased numbers of CD16 CD56 cells and expansion of a population of CD16dimCD56- cells with low lytic activity

1 reference

12 December 2020

Antiviral activity of NK 1.1 natural killer cells in C57BL/6 scid mice infected with murine cytomegalovirus

1 reference

12 December 2020

Identifiers

DOI

10.3389/FIMMU.2016.00545

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994588 AND SRC:MED&resulttype=core&format=json

30 March 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994588 AND SRC:MED&resulttype=core&format=json

30 March 2020

PubMed publication ID

2 references