The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency (Q35931565)

11 August 2017

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency (English)

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11 August 2017

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Salem Al-Tamemi

47

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Peter D Arkwright

object named as

Peter D Arkwright

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Talal A Chatila

object named as

Talal A Chatila

56

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Caner Aytekin

34

object named as

Caner Aytekin

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11 August 2017

8

Zahra Pourpak

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11 August 2017

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Ayper Somer

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11 August 2017

40

Andrew R Gennery

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11 August 2017

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Bodo Grimbacher

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11 August 2017

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Necil Kutukculer

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11 August 2017

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Yildiz Camcioglu

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11 August 2017

33

Ferah Genel

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11 August 2017

38

Ismail Reisli

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11 August 2017

3

Sevgi Keles

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11 August 2017

4

Alejandro A Schäffer

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11 August 2017

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Tim Niehues

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11 August 2017

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Raif S Geha

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11 August 2017

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Amos Etzioni

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11 August 2017

Karin R Engelhardt

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11 August 2017

Michael E Gertz

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11 August 2017

Elena C Sigmund

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11 August 2017

Cristina Glocker

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11 August 2017

Shiva Saghafi

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Ruben Ceja

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11 August 2017

Atfa Sassi

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11 August 2017

Laura E Graham

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Michel J Massaad

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11 August 2017

Fethi Mellouli

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11 August 2017

Imen Ben-Mustapha

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11 August 2017

Monia Khemiri

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11 August 2017

Sara Sebnem Kilic

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11 August 2017

Alexandra F Freeman

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11 August 2017

Jens Thiel

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11 August 2017

Ilka Schulze

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11 August 2017

Waleed Al-Herz

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11 August 2017

Ayse Metin

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11 August 2017

Özden Sanal

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11 August 2017

Ilhan Tezcan

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11 August 2017

Mehdi Yeganeh

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11 August 2017

Gregor Dueckers

27

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11 August 2017

Sebastian Weinspach

28

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11 August 2017

Turkan Patiroglu

29

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11 August 2017

Ekrem Unal

30

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11 August 2017

Majed Dasouki

31

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11 August 2017

Mustafa Yilmaz

32

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11 August 2017

Mehmet Kilic

37

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11 August 2017

Andrew J Cant

41

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11 August 2017

Alison Jones

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11 August 2017

Bobby H Gaspar

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11 August 2017

Maria C Pietrogrande

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11 August 2017

Zeina Baz

46

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11 August 2017

Vassilios Lougaris

48

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11 August 2017

Gerard Lefranc

49

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11 August 2017

Andre Megarbane

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11 August 2017

Jeannette Boutros

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11 August 2017

Nermeen Galal

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11 August 2017

Mohamed Bejaoui

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11 August 2017

Mohamed-Ridha Barbouche

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11 August 2017

language of work or name

English

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publication date

25 February 2015

1 reference

The Journal of Allergy and Clinical Immunology

11 August 2017

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11 August 2017

136

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2

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11 August 2017

402-412

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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Additional diverse findings expand the clinical presentation of DOCK8 deficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Cutaneous manifestations of DOCK8 deficiency syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

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.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Combined immunodeficiency associated with DOCK8 mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

STAT3 mutations in the hyper-IgE syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Genetic linkage of hyper-IgE syndrome to chromosome 4.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Bone marrow transplantation does not correct the hyper IgE syndrome

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4530066

Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease

14 November 2018

1 reference

12 December 2020

Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations

1 reference

12 December 2020

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

1 reference

12 December 2020

Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome

1 reference

12 December 2020

10.1016/J.JACI.2014.12.1945

Identifiers

DOI

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11 August 2017

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11 August 2017

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