(Q34042360)

30 July 2017

title

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype (English)

1 reference

30 July 2017

1 reference

6

Erwin W Gelfand

1 reference

30 July 2017

8

Gulbu Uzel

1 reference

30 July 2017

16

Daniel C Douek

1 reference

30 July 2017

4

Brenna J Hill

1 reference

30 July 2017

Huie Jing

1

1 reference

30 July 2017

Qian Zhang

2

1 reference

30 July 2017

Yu Zhang

3

1 reference

30 July 2017

Christopher G Dove

5

1 reference

30 July 2017

T Prescott Atkinson

7

1 reference

30 July 2017

Helen F Matthews

9

1 reference

30 July 2017

Peter J Mustillo

10

1 reference

30 July 2017

David B Lewis

11

1 reference

30 July 2017

Fotini D Kavadas

12

1 reference

30 July 2017

I Celine Hanson

13

1 reference

30 July 2017

Ashish R Kumar

14

1 reference

30 July 2017

Raif S Geha

15

1 reference

30 July 2017

Steven M Holland

17

1 reference

30 July 2017

Alexandra F Freeman

18

1 reference

30 July 2017

Helen C Su

19

1 reference

30 July 2017

language of work or name

English

0 references

publication date

3 May 2014

1 reference

30 July 2017

number of pages

9

1 reference

The Journal of Allergy and Clinical Immunology

inferred from page(s)

published in

1 reference

30 July 2017

volume

133

1 reference

30 July 2017

issue

6

1 reference

30 July 2017

page(s)

1667-1675

1 reference

DOCK8 is critical for the survival and function of NKT cells

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Additional diverse findings expand the clinical presentation of DOCK8 deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Cutaneous manifestations of DOCK8 deficiency syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Revertant mosaicism in skin: natural gene therapy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Combined immunodeficiency associated with DOCK8 mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Somatic mosaicism in primary immune deficiencies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

B-cell kinetics in humans: rapid turnover of peripheral blood memory cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Recombination hot spots and human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

In vivo kinetics of human natural killer cells: the effects of ageing and acute and chronic viral infection.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Measurement and modeling of human T cell kinetics.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132167

Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24797421

12 December 2020

inferred from PubMed ID database lookup

Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24797421

12 December 2020

inferred from PubMed ID database lookup

Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24797421

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.JACI.2014.03.025

1 reference

30 July 2017

1 reference

30 July 2017

1 reference