Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE (Q36593779)

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2 March 2020

title

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26680607%20AND%20SRC:MED&resulttype=core&format=json

combined immunodeficiency

2 March 2020

main subject

1 reference

based on heuristic

inferred from title

author

Pauline A van Schouwenburg

2

1 reference

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2 March 2020

Kate Thomson

7

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2 March 2020

Smita Y Patel

14

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2 March 2020

author name string

Anne-Kathrin Kienzler

1

1 reference

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2 March 2020

John Taylor

3

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2 March 2020

Ishita Marwah

4

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2 March 2020

Richa U Sharma

5

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2 March 2020

Charlotte Noakes

6

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2 March 2020

Ross Sadler

8

1 reference

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2 March 2020

Shelley Segal

9

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2 March 2020

Berne Ferry

10

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2 March 2020

Jenny C Taylor

11

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2 March 2020

Edward Blair

12

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2 March 2020

Helen Chapel

13

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2 March 2020

publication date

8 December 2015

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2 March 2020

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2 March 2020

volume

163

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2 March 2020

page(s)

17-21

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Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

2 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=4758821

Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758821

Dedicator of cytokinesis 8 interacts with talin and Wiskott-Aldrich syndrome protein to regulate NK cell cytotoxicity

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758821

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758821

Combined immunodeficiency associated with DOCK8 mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758821

Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758821

A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8⁺ and natural killer cell cytotoxicity.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758821

B cell subsets in healthy children: reference values for evaluation of B cell maturation process in peripheral blood.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758821

10.1016/J.CLIM.2015.12.003

20 September 2018

Identifiers

DOI

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2 March 2020

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2 March 2020

1 reference

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