Literature DB >> 26235511

Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency.

Allison J Burbank1,2, Shaili N Shah1,2, Maureen Montgomery3, David Peden2, Teresa K Tarrant4, Eric T Weimer3,5.   

Abstract

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Year:  2015        PMID： 26235511      PMCID： PMC4724217          DOI： 10.1111/pai.12451

Source DB:  PubMed          Journal:  Pediatr Allergy Immunol        ISSN： 0905-6157            Impact factor:   6.377


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  6 in total

1.  The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.

Authors:  Karin R Engelhardt; Michael E Gertz; Sevgi Keles; Alejandro A Schäffer; Elena C Sigmund; Cristina Glocker; Shiva Saghafi; Zahra Pourpak; Ruben Ceja; Atfa Sassi; Laura E Graham; Michel J Massaad; Fethi Mellouli; Imen Ben-Mustapha; Monia Khemiri; Sara Sebnem Kilic; Amos Etzioni; Alexandra F Freeman; Jens Thiel; Ilka Schulze; Waleed Al-Herz; Ayse Metin; Özden Sanal; Ilhan Tezcan; Mehdi Yeganeh; Tim Niehues; Gregor Dueckers; Sebastian Weinspach; Turkan Patiroglu; Ekrem Unal; Majed Dasouki; Mustafa Yilmaz; Ferah Genel; Caner Aytekin; Necil Kutukculer; Ayper Somer; Mehmet Kilic; Ismail Reisli; Yildiz Camcioglu; Andrew R Gennery; Andrew J Cant; Alison Jones; Bobby H Gaspar; Peter D Arkwright; Maria C Pietrogrande; Zeina Baz; Salem Al-Tamemi; Vassilios Lougaris; Gerard Lefranc; Andre Megarbane; Jeannette Boutros; Nermeen Galal; Mohamed Bejaoui; Mohamed-Ridha Barbouche; Raif S Geha; Talal A Chatila; Bodo Grimbacher
Journal:  J Allergy Clin Immunol       Date:  2015-02-25       Impact factor: 10.793

2.  Matched related and unrelated donor hematopoietic stem cell transplantation for DOCK8 deficiency.

Authors:  Jennifer Cuellar-Rodriguez; Alexandra F Freeman; Jennifer Grossman; Helen Su; Mark Parta; Heardley Murdock; Nirali Shah; Catherine Bollard; Heidi H Kong; Niki Moutsopoulos; Kelly Stone; Juan Gea-Banacloche; Steven M Holland; Dennis D Hickstein
Journal:  Biol Blood Marrow Transplant       Date:  2015-01-27       Impact factor: 5.742

3.  DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.

Authors:  Susanne E Aydin; Sara Sebnem Kilic; Caner Aytekin; Ashish Kumar; Oscar Porras; Leena Kainulainen; Larysa Kostyuchenko; Ferah Genel; Necil Kütükcüler; Neslihan Karaca; Luis Gonzalez-Granado; Jordan Abbott; Daifulah Al-Zahrani; Nima Rezaei; Zeina Baz; Jens Thiel; Stephan Ehl; László Marodi; Jordan S Orange; Julie Sawalle-Belohradsky; Sevgi Keles; Steven M Holland; Özden Sanal; Deniz C Ayvaz; Ilhan Tezcan; Hamoud Al-Mousa; Zobaida Alsum; Abbas Hawwari; Ayse Metin; Susanne Matthes-Martin; Manfred Hönig; Ansgar Schulz; Capucine Picard; Vincent Barlogis; Andrew Gennery; Marianne Ifversen; Joris van Montfrans; Taco Kuijpers; Robbert Bredius; Gregor Dückers; Waleed Al-Herz; Sung-Yun Pai; Raif Geha; Gundula Notheis; Carl-Philipp Schwarze; Betül Tavil; Fatih Azik; Kirsten Bienemann; Bodo Grimbacher; Valerie Heinz; H Bobby Gaspar; Roland Aydin; Beate Hagl; Benjamin Gathmann; Bernd H Belohradsky; Hans D Ochs; Talal Chatila; Ellen D Renner; Helen Su; Alexandra F Freeman; Karin Engelhardt; Michael H Albert
Journal:  J Clin Immunol       Date:  2015-01-28       Impact factor: 8.317

4.  Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.

Authors:  Huie Jing; Qian Zhang; Yu Zhang; Brenna J Hill; Christopher G Dove; Erwin W Gelfand; T Prescott Atkinson; Gulbu Uzel; Helen F Matthews; Peter J Mustillo; David B Lewis; Fotini D Kavadas; I Celine Hanson; Ashish R Kumar; Raif S Geha; Daniel C Douek; Steven M Holland; Alexandra F Freeman; Helen C Su
Journal:  J Allergy Clin Immunol       Date:  2014-05-03       Impact factor: 10.793

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

Authors:  Karin R Engelhardt; Sean McGhee; Sabine Winkler; Atfa Sassi; Cristina Woellner; Gabriela Lopez-Herrera; Andrew Chen; Hong Sook Kim; Maria Garcia Lloret; Ilka Schulze; Stephan Ehl; Jens Thiel; Dietmar Pfeifer; Hendrik Veelken; Tim Niehues; Kathrin Siepermann; Sebastian Weinspach; Ismail Reisli; Sevgi Keles; Ferah Genel; Necil Kutukculer; Necil Kutuculer; Yildiz Camcioğlu; Ayper Somer; Elif Karakoc-Aydiner; Isil Barlan; Andrew Gennery; Ayse Metin; Aydan Degerliyurt; Maria C Pietrogrande; Mehdi Yeganeh; Zeina Baz; Salem Al-Tamemi; Christoph Klein; Jennifer M Puck; Steven M Holland; Edward R B McCabe; Bodo Grimbacher; Talal A Chatila
Journal:  J Allergy Clin Immunol       Date:  2009-12       Impact factor: 10.793

6.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Authors:  François-Olivier Desmet; Dalil Hamroun; Marine Lalande; Gwenaëlle Collod-Béroud; Mireille Claustres; Christophe Béroud
Journal:  Nucleic Acids Res       Date:  2009-04-01       Impact factor: 16.971
  6 in total
  2 in total

Review 1.  DOCK8 deficiency: Insights into pathophysiology, clinical features and management.

Authors:  Catherine M Biggs; Sevgi Keles; Talal A Chatila
Journal:  Clin Immunol       Date:  2017-06-15       Impact factor: 3.969

2.  A genome-wide association study for harness racing success in the Norwegian-Swedish coldblooded trotter reveals genes for learning and energy metabolism.

Authors:  Brandon D Velie; Kim Jäderkvist Fegraeus; Marina Solé; Maria K Rosengren; Knut H Røed; Carl-Fredrik Ihler; Eric Strand; Gabriella Lindgren
Journal:  BMC Genet       Date:  2018-08-29       Impact factor: 2.797
  2 in total

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