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Inborn errors of the development of human natural killer cells
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PubMed
title
Inborn errors of the development of human natural killer cells
(English)
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stated in
PubMed
author
Jean-Laurent Casanova
series ordinal
6
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Emmanuelle Jouanguy
series ordinal
1
object named as
Emmanuelle Jouanguy
0 references
Eric Vivier
series ordinal
2
object named as
Eric Vivier
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Laure Gineau
object named as
Laure Gineau
series ordinal
2
0 references
Vivien Béziat
object named as
Vivien Béziat
series ordinal
4
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Julien Cottineau
series ordinal
3
object named as
Julien Cottineau
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stated in
Crossref
language of work or name
English
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stated in
PubMed
publication date
December 2013
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stated in
PubMed
published in
Current Opinion in Allergy and Clinical Immunology
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stated in
PubMed
volume
13
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stated in
PubMed
issue
6
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PubMed
page(s)
589-95
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PubMed
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Metabolites from apoptotic thymocytes inhibit thymopoiesis in adenosine deaminase-deficient fetal thymic organ cultures
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28 September 2017
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Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
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28 September 2017
Tuning the threshold of natural killer cell responses
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28 September 2017
Bilateral adrenal EBV-associated smooth muscle tumors in a child with a natural killer cell deficiency
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28 September 2017
Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis
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28 September 2017
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.
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Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
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Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
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Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
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28 September 2017
Transcriptional control of natural killer cell development and function
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Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications
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STAT5b deficiency: an unsuspected cause of growth failure, immunodeficiency, and severe pulmonary disease
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NK cell terminal differentiation: correlated stepwise decrease of NKG2A and acquisition of KIRs
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Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
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AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10.
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28 September 2017
Human natural killer cell development
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Human natural killer cell deficiencies
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28 September 2017
Evidence for discrete stages of human natural killer cell differentiation in vivo
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28 September 2017
Natural killer cell developmental pathways: a question of balance.
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28 September 2017
A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8.
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28 September 2017
Natural killer cells in human health and disease
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28 September 2017
Natural-killer cells and dendritic cells: "l'union fait la force".
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28 September 2017
Adenosine deaminase deficiency: metabolic basis of immune deficiency and pulmonary inflammation
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28 September 2017
Natural killer cell receptor signaling
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28 September 2017
Human natural killer cell deficiencies and susceptibility to infection
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28 September 2017
Natural killer cells and pregnancy
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28 September 2017
Direct recognition of cytomegalovirus by activating and inhibitory NK cell receptors
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28 September 2017
Differential effects of interleukin-15 and interleukin-2 on differentiation of bipotential T/natural killer progenitor cells
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28 September 2017
Expression of a functional c-kit receptor on a subset of natural killer cells
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28 September 2017
Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.
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28 September 2017
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Dendritic cell, monocyte, B and NK lymphoid deficiency defines the lost lineages of a new GATA-2 dependent myelodysplastic syndrome.
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Monocytes control natural killer cell differentiation to effector phenotypes
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28 November 2018
Expression patterns of NKG2A, KIR, and CD57 define a process of CD56dim NK-cell differentiation uncoupled from NK-cell education
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28 November 2018
CD62L expression identifies a unique subset of polyfunctional CD56dim NK cells
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28 November 2018
CD56brightCD16- killer Ig-like receptor- NK cells display longer telomeres and acquire features of CD56dim NK cells upon activation.
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28 November 2018
Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes.
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28 November 2018
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
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28 November 2018
Licensing of natural killer cells by host major histocompatibility complex class I molecules
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28 November 2018
Fatal varicella associated with selective natural killer cell deficiency
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28 November 2018
Absence of circulating natural killer and primed CD8+ cells in life-threatening varicella.
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28 November 2018
IL-3 or IL-7 increases ex vivo gene transfer efficiency in ADA-SCID BM CD34+ cells while maintaining in vivo lymphoid potential.
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28 November 2018
A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype
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28 November 2018
A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells
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28 November 2018
Vital involvement of a natural killer cell activation receptor in resistance to viral infection.
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28 November 2018
Susceptibility to mouse cytomegalovirus is associated with deletion of an activating natural killer cell receptor of the C-type lectin superfamily.
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28 November 2018
Natural killer cell receptors
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28 November 2018
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077347
retrieved
28 November 2018
Severe herpesvirus infections in an adolescent without natural killer cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077347
retrieved
28 November 2018
Growth hormone insensitivity associated with a STAT5b mutation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24135998
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Reactivity of lymphocytes from normal persons on cultured tumor cells
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24135998
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24135998
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Natural killer cell deficiencies and severe varicella infection
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24135998
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24135998
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Successful haploidentical bone marrow transplantation in a patient with reticular dysgenesis: three-year follow-up
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24135998
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Role of interleukin-2 (IL-2), IL-7, and IL-15 in natural killer cell differentiation from cord blood hematopoietic progenitor cells and from gamma c transduced severe combined immunodeficiency X1 bone marrow cells
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24135998
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24135998
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24135998
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1097/ACI.0000000000000011
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3841247
OpenCitations bibliographic resource ID
3841247
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3841247
PMC publication ID
4077347
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3841247
PubMed publication ID
24135998
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3841247
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