Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee (Q24645726)

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English	Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee	scientific article

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scholarly article

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Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee (English)

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1 reference

based on heuristic

inferred from title

Jean-Laurent Casanova

3

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6

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Jennifer M Puck

10

object named as

Jennifer M Puck

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9

object named as

Hans D Ochs

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Lennart Hammarström

7

object named as

Lennart Hammarström

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Luigi D Notarangelo

2

object named as

Luigi D Notarangelo

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Chaim M Roifman

11

object named as

Chaim Roifman

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1

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Raif S Geha

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Mary Ellen Conley

5

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Mary Ellen Conley

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4

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Helen Chapel

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Shigeaki Nonoyama

8

object named as

Shigeaki Nonoyama

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12

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Reinhard Seger

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author name string

Josiah Wedgwood

13

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language of work or name

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publication date

October 2007

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The Journal of Allergy and Clinical Immunology

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120

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4

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776-94

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A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets

1 reference

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7 April 2017

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

1 reference

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Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4

1 reference

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7 April 2017

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

7 April 2017

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

7 April 2017

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

1 reference

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7 April 2017

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

1 reference

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7 April 2017

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

7 April 2017

Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

7 April 2017

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

27 September 2017

Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

27 September 2017

A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome

1 reference

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27 September 2017

Defective DNA repair and increased genomic instability in Cernunnos-XLF-deficient murine ES cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

27 September 2017

Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

27 September 2017

Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

27 September 2017

Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

27 September 2017

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

27 September 2017

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

30 May 2018

A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601718

28 November 2018

The induction of Bim expression in human T-cell blasts is dependent on nonapoptotic Fas/CD95 signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/17952897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

STAT3 mutations in the hyper-IgE syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.JACI.2007.08.053

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/J.JACI.2007.08.053

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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