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Human primary immunodeficiency diseases: a perspective
scientific article published on January 2004
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
14699405
retrieved
9 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Human primary immunodeficiency diseases: a perspective
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
14699405
retrieved
9 August 2017
author
Alain Fischer
series ordinal
1
object named as
Alain Fischer
0 references
language of work or name
English
0 references
publication date
1 January 2004
1 reference
stated in
Europe PubMed Central
PubMed ID
14699405
retrieved
9 August 2017
published in
Nature Immunology
1 reference
stated in
Europe PubMed Central
PubMed ID
14699405
retrieved
9 August 2017
volume
5
1 reference
stated in
Europe PubMed Central
PubMed ID
14699405
retrieved
9 August 2017
page(s)
23-30
1 reference
stated in
Europe PubMed Central
PubMed ID
14699405
retrieved
9 August 2017
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
14699405
retrieved
9 August 2017
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Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency
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Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
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Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells
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AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification
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7 January 2021
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7 January 2021
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Small anti-viral compounds activate immune cells via the TLR7 MyD88-dependent signaling pathway
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7 January 2021
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Antigen presentation and T-cell activation in epidermodysplasia verruciformis
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Crossref
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7 January 2021
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B-cell lymphoma in a patient with WHIM syndrome
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Crossref
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7 January 2021
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Immunity to Streptococcus pneumoniae: Factors affecting production and efficacy
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7 January 2021
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MBL genotype and risk of invasive pneumococcal disease: a case-control study
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7 January 2021
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A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
1 reference
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7 January 2021
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X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
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Crossref
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7 January 2021
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inferred from DOI database lookup
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
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NF-kappaB regulation in the immune system
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IRAK-4 as the central TIR signaling mediator in innate immunity
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IkappaB kinase signaling is essential for maintenance of mature B cells
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The role of nuclear factor-kappaB essential modulator (NEMO) in B cell development and survival.
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Two pathways to NF-kappaB.
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The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
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7 January 2021
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Perforin and the granule exocytosis cytotoxicity pathway
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Fas ligand-induced apoptosis
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Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis
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7 January 2021
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Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
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7 January 2021
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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
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7 January 2021
based on heuristic
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Lytic granules, secretory lysosomes and disease
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7 January 2021
based on heuristic
inferred from DOI database lookup
The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins
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7 January 2021
based on heuristic
inferred from DOI database lookup
Induction of apoptosis and caspase activation in cells obtained from familial haemophagocytic lymphohistiocytosis patients
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7 January 2021
based on heuristic
inferred from DOI database lookup
Homeostasis and self-tolerance in the immune system: turning lymphocytes off.
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7 January 2021
based on heuristic
inferred from DOI database lookup
Programmed contraction of CD8(+) T cells after infection.
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7 January 2021
based on heuristic
inferred from DOI database lookup
TCR-Mediated internalization of peptide-MHC complexes acquired by T cells
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
Fratricide among CD8(+) T lymphocytes naturally infected with human T cell lymphotropic virus type I.
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
Partial engraftment of donor bone marrow cells associated with long-term remission of haemophagocytic lymphohistiocytosis
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II
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7 January 2021
based on heuristic
inferred from DOI database lookup
Viral infection results in massive CD8+ T cell expansion and mortality in vaccinated perforin-deficient mice
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7 January 2021
based on heuristic
inferred from DOI database lookup
Autoimmunity. The Fas track.
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7 January 2021
based on heuristic
inferred from DOI database lookup
Gene defect behind APECED: a new clue to autoimmunity
1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FNI1023
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7 January 2021
based on heuristic
inferred from DOI database lookup
Aire deficient mice develop multiple features of APECED phenotype and show altered immune response
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Projection of an immunological self shadow within the thymus by the aire protein
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis
1 reference
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Aire regulates negative selection of organ-specific T cells
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lymphotoxin pathway directs thymic Aire expression
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RAG and RAG defects
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Control of regulatory T cell development by the transcription factor Foxp3
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Foxp3 programs the development and function of CD4+CD25+ regulatory T cells
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An essential role for Scurfin in CD4+CD25+ T regulatory cells
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNI1023
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7 January 2021
based on heuristic
inferred from DOI database lookup
Dynamics of suppressor T cells: in vivo veritas
1 reference
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Crossref
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https://api.crossref.org/works/10.1038%2FNI1023
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic dissection of immunity to mycobacteria: the human model
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7 January 2021
based on heuristic
inferred from DOI database lookup
Nonhomologous end joining and V(D)J recombination require an additional factor
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis
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7 January 2021
based on heuristic
inferred from DOI database lookup
Autoimmunity as the consequence of a spontaneous mutation in Rasgrp1.
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7 January 2021
based on heuristic
inferred from DOI database lookup
Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Novel approaches for identifying genes regulating lymphocyte development and function
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7 January 2021
based on heuristic
inferred from DOI database lookup
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NI1023
1 reference
stated in
Europe PubMed Central
PubMed ID
14699405
retrieved
9 August 2017
PubMed ID
14699405
1 reference
stated in
Europe PubMed Central
PubMed ID
14699405
retrieved
9 August 2017
ResearchGate publication ID
8939604
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