(Q35780432)

10 August 2017

title

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections (English)

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Jean-Laurent Casanova

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Axel Schambach

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Nina K Serwas

Nina K Serwas

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Kerry Dobbs

Kerry Dobbs

1

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Slavé Petrovski

Slavé Petrovski

31

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Bertrand Boisson

Bertrand Boisson

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Ergin Çiftçi

Ergin Çiftçi

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Laurent Abel

Laurent Abel

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Satoshi Okada

Satoshi Okada

10

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Janna Saarela

Janna Saarela

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Talal A Chatila

Talal A Chatila

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Mikael Knip

Mikael Knip

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Luigi D Notarangelo

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Luigi D Notarangelo

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Flore Rozenberg

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Yuval Itan

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Vincent Pedergnana

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Waleed Al-Herz

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Magali Audry

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8

Sevgi Keles

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Raif S Geha

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Kerstin Felgentreff

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10 August 2017

author name string

Cecilia Domínguez Conde

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10 August 2017

Silvia Parolini

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10 August 2017

Janet Chou

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Emma Haapaniemi

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10 August 2017

Ivan Bilic

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Michel J Massaad

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Samuli Rounioja

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Adel M Alwahadneh

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10 August 2017

Kelly Capuder

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10 August 2017

Toshiro K Ohsumi

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Şule Haskoloğlu

21

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Arzu Ensari

22

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Alessandro Moretta

24

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10 August 2017

Ornella Patrizi

26

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Pierre Lebon

28

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10 August 2017

David B Goldstein

32

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Roberta E Parrott

33

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Berna Savas

34

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Giovanna Tabellini

36

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Anne Marie Comeau

39

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Rebecca H Buckley

42

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Aydan İkincioğulları

43

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Merja Helminen

45

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Figen Doğu

46

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Kaan Boztuğ

48

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10 August 2017

language of work or name

English

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publication date

1 June 2015

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The New England Journal of Medicine

10 August 2017

published in

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10 August 2017

volume

372

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10 August 2017

issue

25

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10 August 2017

page(s)

2409-2422

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Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells

10 August 2017

cites work

1 reference

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Discovery of single-gene inborn errors of immunity by next generation sequencing

27 July 2018

1 reference

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Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

27 July 2018

1 reference

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Immunology taught by human genetics

27 July 2018

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

27 July 2018

1 reference

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The next-generation sequencing revolution and its impact on genomics

27 July 2018

1 reference

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Signaling by Fyn-ADAP via the Carma1-Bcl-10-MAP3K7 signalosome exclusively regulates inflammatory cytokine production in NK cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

DOCK8 is critical for the survival and function of NKT cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Human NK cell receptors/markers: a tool to analyze NK cell development, subsets and function.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Functional T cell immunodeficiencies (with T cells present).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

TLR3 immunity to infection in mice and humans

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

The phenotype of human STK4 deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

DOCK8 immune deficiency as a model for primary cytoskeletal dysfunction.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Selective control of type I IFN induction by the Rac activator DOCK2 during TLR-mediated plasmacytoid dendritic cell activation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

WASP: a key immunological multitasker

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Exome sequencing identifies the cause of a mendelian disorder

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Combined immunodeficiency associated with DOCK8 mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Sequential regulation of DOCK2 dynamics by two phospholipids during neutrophil chemotaxis.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Functions of natural killer cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Differential requirement for DOCK2 in migration of plasmacytoid dendritic cells versus myeloid dendritic cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Human primary immunodeficiency diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Dissecting natural killer cell activation pathways through analysis of genetic mutations in human and mouse

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Plasmacytoid dendritic cells in immunity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

DOCK2 is essential for antigen-induced translocation of TCR and lipid rafts, but not PKC-theta and LFA-1, in T cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

DOCK2 regulates Rac activation and cytoskeletal reorganization through interaction with ELMO1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Haematopoietic cell-specific CDM family protein DOCK2 is essential for lymphocyte migration

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Non-adherent cell-specific expression of DOCK2, a member of the human CDM-family proteins

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

The Rac activator DOCK2 regulates natural killer cell-mediated cytotoxicity in mice through the lytic synapse formation

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Blockade of inflammatory responses by a small-molecule inhibitor of the Rac activator DOCK2.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Unraveling the functions of plasmacytoid dendritic cells during viral infections, autoimmunity, and tolerance

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Human natural killer receptors, co-receptors, and their ligands.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

Differential requirements for DOCK2 and phosphoinositide-3-kinase gamma during T and B lymphocyte homing

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4480434

DOCK2 is required in T cell precursors for development of Valpha14 NK T cells

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26083206

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1056/NEJMOA1413462

1 reference

10 August 2017

1 reference

10 August 2017

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