DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients (Q38334918)

2 September 2017

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients (English)

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2 September 2017

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14

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33

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Roland Aydin

52

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Beate Hagl

Beate Hagl

53

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Jordan Abbott

Jordan Abbott

12

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Leena Kainulainen

Leena Kainulainen

6

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Stephan Ehl

Stephan Ehl

17

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Abbas Hawwari

Abbas Hawwari

Luis Ignacio Gonzalez-Granado

28

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Luis Gonzalez-Granado

11

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Fatih Azik

Fatih Azik

47

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Jordan Orange

Jordan S Orange

19

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Talal A Chatila

Talal Chatila

57

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Caner Aytekin

3

Caner Aytekin

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38

Taco Kuijpers

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56

Hans D Ochs

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Deniz C Ayvaz

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Andrew R Gennery

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Andrew Gennery

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Bodo Grimbacher

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Neslihan Edeer Karaca

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Neslihan Karaca

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8

Ferah Genel

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21

Sevgi Keles

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34

Vincent Barlogis

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Betül Tavil

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43

Raif Geha

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Susanne E Aydin

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Sara Sebnem Kilic

2

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Ashish Kumar

4

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Oscar Porras

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Larysa Kostyuchenko

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Necil Kütükcüler

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Daifulah Al-Zahrani

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Zeina Baz

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Jens Thiel

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László Marodi

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Julie Sawalle-Belohradsky

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Steven M Holland

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Özden Sanal

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Ilhan Tezcan

25

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Hamoud Al-Mousa

26

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Zobaida Alsum

27

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Ayse Metin

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Susanne Matthes-Martin

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Manfred Hönig

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Ansgar Schulz

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Marianne Ifversen

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Joris van Montfrans

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Robbert Bredius

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Gregor Dückers

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Waleed Al-Herz

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Sung-Yun Pai

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Gundula Notheis

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Carl-Philipp Schwarze

45

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Kirsten Bienemann

48

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Valerie Heinz

50

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H Bobby Gaspar

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Benjamin Gathmann

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Bernd H Belohradsky

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Ellen D Renner

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Helen Su

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Alexandra F Freeman

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Karin Engelhardt

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Michael H Albert

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inborn errors working party of EBMT

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28 January 2015

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Journal of Clinical Immunology

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https://scigraph.springernature.com/pub.10.1007/s10875-014-0126-0

2 September 2017

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

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Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency

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

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

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Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency

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

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DOCK8 is critical for the survival and function of NKT cells

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

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

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Cutaneous manifestations of DOCK8 deficiency syndrome

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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.

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

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Additional diverse findings expand the clinical presentation of DOCK8 deficiency

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

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

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

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Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

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Identifiers

DOI

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Dimensions Publication ID

2 September 2017

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