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Discovery of single-gene inborn errors of immunity by next generation sequencing
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PubMed
title
Discovery of single-gene inborn errors of immunity by next generation sequencing
(English)
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stated in
PubMed
author
Jean-Laurent Casanova
series ordinal
2
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author name string
Mary Ellen Conley
series ordinal
1
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stated in
Crossref
language of work or name
English
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stated in
PubMed
publication date
October 2014
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stated in
PubMed
published in
Current Opinion in Immunology
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stated in
PubMed
volume
30
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stated in
PubMed
page(s)
17-23
1 reference
stated in
PubMed
describes a project that uses
massive parallel sequencing
1 reference
based on heuristic
inferred from title
cites work
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Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
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Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease
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Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation
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Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability
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Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency
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Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK.
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A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
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LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia
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LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
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MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.
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Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
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STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis
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28 September 2017
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
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Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
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Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
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28 September 2017
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31 May 2018
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28 November 2018
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.COI.2014.05.004
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
846564
OpenCitations bibliographic resource ID
846564
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
846564
PMC publication ID
4198453
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
846564
PubMed publication ID
24886697
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
846564
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