(Q33639830)

28 July 2017

title

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

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14

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Stephan Ehl

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Jennifer M Puck

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Ayper Somer

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Andrew Gennery

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Bodo Grimbacher

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Necil Kutukculer

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Ferah Genel

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Ismail Reisli

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Sevgi Keles

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Tim Niehues

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Talal A Chatila

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Sean McGhee

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Maria Garcia Lloret

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Edward R B McCabe

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28 July 2017

Karin R Engelhardt

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Sabine Winkler

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Atfa Sassi

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Cristina Woellner

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Gabriela Lopez-Herrera

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28 July 2017

Andrew Chen

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Hong Sook Kim

8

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28 July 2017

Ilka Schulze

10

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Jens Thiel

12

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Dietmar Pfeifer

13

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Kathrin Siepermann

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Sebastian Weinspach

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28 July 2017

Yildiz Camcioğlu

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Elif Karakoc-Aydiner

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Isil Barlan

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Ayse Metin

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Aydan Degerliyurt

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Maria C Pietrogrande

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Mehdi Yeganeh

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Zeina Baz

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Salem Al-Tamemi

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Christoph Klein

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Steven M Holland

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28 July 2017

language of work or name

English

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publication date

1 December 2009

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The Journal of Allergy and Clinical Immunology

28 July 2017

published in

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28 July 2017

volume

124

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28 July 2017

issue

6

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28 July 2017

page(s)

1289-302.e4

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Combined immunodeficiency associated with DOCK8 mutations

28 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=2818862

Activation of Rho GTPases by DOCK exchange factors is mediated by a nucleotide sensor

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Isolated populations and complex disease gene identification

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

STAT3 mutations in the hyper-IgE syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Detection of large-scale variation in the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Genome architecture, rearrangements and genomic disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Genetic linkage of hyper-IgE syndrome to chromosome 4.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

The hyper IgE syndrome and mutations in TYK2

14 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20004785

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2009.10.038

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28 July 2017

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28 July 2017

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