Literature DB >> 27207373

Recent Advances in DOCK8 Immunodeficiency Syndrome.

Qian Zhang1,2, Huie Jing1, Helen C Su3.   

Abstract

Since the discovery of the genetic basis of DOCK8 immunodeficiency syndrome (DIDS) in 2009, several hundred patients worldwide have been reported, validating and extending the initial clinical descriptions. Importantly, the beneficial role of hematopoietic stem cell transplantation for this disease has emerged, providing impetus for improved diagnosis. Additionally, several groups have further elucidated the biological functions of DOCK8 in the immune system that help explain disease pathogenesis. Here, we summarize these recent developments.

Entities:  

Keywords:  DOCK8; combined immunodeficiency; cutaneous virus infection; cytothripsis; eczema; food allergy; genetics; hematopoietic stem cell transplantation; hyperimmunoglobulinemia E syndrome; somatic reversion; tissue resident memory T cells (TRM)

Mesh：

Substances：

Year:  2016        PMID： 27207373      PMCID： PMC4914394          DOI： 10.1007/s10875-016-0296-z

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


  58 in total

1.  Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome.

Authors:  Ayse Metin; Betul Tavil; Fatih Azık; Dilek Azkur; Ikbal Ok-Bozkaya; Can Kocabas; Bahattin Tunc; Duygu Uckan
Journal:  Pediatr Transplant       Date:  2012-01-17

Review 2.  Treosulfan-based conditioning in DOCK8 deficiency: complete lympho-hematopoietic reconstitution with minimal toxicity.

Authors:  Sujal Ghosh; Friedhelm R Schuster; Ilka Fuchs; Hans-Jürgen Laws; Arndt Borkhardt; Roland Meisel
Journal:  Clin Immunol       Date:  2012-10-14       Impact factor: 3.969

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.  Novel dedicator of cytokinesis 8 mutations identified by multiplex ligation-dependent probe amplification.

Authors:  Beáta Tóth; Zsuzsanna Pistár; Gabriella Csorba; István Balogh; Tímea Kovács; Melinda Erdős; László Maródi
Journal:  Eur J Haematol       Date:  2013-08-20       Impact factor: 2.997

Review 5.  DOCK8 deficiency.

Authors:  Helen C Su; Huie Jing; Qian Zhang
Journal:  Ann N Y Acad Sci       Date:  2011-12       Impact factor: 5.691

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

Authors:  Zobaida Alsum; Abbas Hawwari; Osama Alsmadi; Safa Al-Hissi; Esteban Borrero; Asma' Abu-Staiteh; Hanif G Khalak; Salma Wakil; Abdelmoneim M Eldali; Rand Arnaout; Abdulaziz Al-Ghonaium; Saleh Al-Muhsen; Hasan Al-Dhekri; Bandar Al-Saud; Hamoud Al-Mousa
Journal:  J Clin Immunol       Date:  2012-09-12       Impact factor: 8.317

7.  Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis.

Authors:  Daan J aan de Kerk; Ester M M van Leeuwen; Machiel H Jansen; J Merlijn van den Berg; Marielle Alders; Clementine L Vermont; René A W van Lier; Steven T Pals; Taco W Kuijpers
Journal:  Clin Immunol       Date:  2013-06-19       Impact factor: 3.969

8.  Delayed control of herpes simplex virus infection and impaired CD4(+) T-cell migration to the skin in mouse models of DOCK8 deficiency.

Authors:  Inge E A Flesch; Katrina L Randall; Natasha A Hollett; Hsei Di Law; Lisa A Miosge; Yovina Sontani; Christopher C Goodnow; David C Tscharke
Journal:  Immunol Cell Biol       Date:  2015-03-17       Impact factor: 5.126

Review 9.  Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome.

Authors:  Qian Zhang; Jeremiah C Davis; Christopher G Dove; Helen C Su
Journal:  Dis Markers       Date:  2010       Impact factor: 3.434

10.  Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Authors:  Anne-Kathrin Kienzler; Pauline A van Schouwenburg; John Taylor; Ishita Marwah; Richa U Sharma; Charlotte Noakes; Kate Thomson; Ross Sadler; Shelley Segal; Berne Ferry; Jenny C Taylor; Edward Blair; Helen Chapel; Smita Y Patel
Journal:  Clin Immunol       Date:  2015-12-08       Impact factor: 3.969
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  13 in total

1.  Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.

Authors:  Susanne E Aydin; Alexandra F Freeman; Waleed Al-Herz; Hamoud A Al-Mousa; Rand K Arnaout; Roland C Aydin; Vincent Barlogis; Bernd H Belohradsky; Carmem Bonfim; Robbert G Bredius; Julia I Chu; Oana C Ciocarlie; Figen Doğu; Hubert B Gaspar; Raif S Geha; Andrew R Gennery; Fabian Hauck; Abbas Hawwari; Dennis D Hickstein; Manfred Hoenig; Aydan Ikinciogullari; Christoph Klein; Ashish Kumar; Marianne R S Ifversen; Susanne Matthes; Ayse Metin; Benedicte Neven; Sung-Yun Pai; Suhag H Parikh; Capucine Picard; Ellen D Renner; Özden Sanal; Ansgar S Schulz; Friedhelm Schuster; Nirali N Shah; Evan B Shereck; Mary A Slatter; Helen C Su; Joris van Montfrans; Wilhelm Woessmann; John B Ziegler; Michael H Albert
Journal:  J Allergy Clin Immunol Pract       Date:  2018-11-02

Review 2.  Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome.

Authors:  Helen C Su; Huie Jing; Pam Angelus; Alexandra F Freeman
Journal:  Immunol Rev       Date:  2019-01       Impact factor: 12.988

Review 3.  Human hyper-IgE syndrome: singular or plural?

Authors:  Qian Zhang; Bertrand Boisson; Vivien Béziat; Anne Puel; Jean-Laurent Casanova
Journal:  Mamm Genome       Date:  2018-08-09       Impact factor: 2.957

4.  The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.

Authors:  Arnon Broides; Amarilla B Mandola; Jacov Levy; Baruch Yerushalmi; Vered Pinsk; Michal Eldan; George Shubinsky; Nurit Hadad; Rachel Levy; Amit Nahum; Miriam Ben-Harosh; Atar Lev; Amos Simon; Raz Somech
Journal:  Immunol Res       Date:  2017-06       Impact factor: 2.829

5.  DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

Authors:  Aiko Iwata-Otsubo; Alyssa L Ritter; Brooke Weckselbatt; Nicole R Ryan; David Burgess; Laura K Conlin; Kosuke Izumi
Journal:  Am J Med Genet A       Date:  2017-11-12       Impact factor: 2.802

6.  Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma.

Authors:  David Buchbinder; Ivan Kirov; Jeffrey Danielson; Nirali N Shah; Alexandra F Freeman; Rishikesh S Chavan; Helen C Su
Journal:  J Clin Immunol       Date:  2019-07-02       Impact factor: 8.317

7.  POLQ suppresses interhomolog recombination and loss of heterozygosity at targeted DNA breaks.

Authors:  Luther Davis; Kevin J Khoo; Yinbo Zhang; Nancy Maizels
Journal:  Proc Natl Acad Sci U S A       Date:  2020-09-01       Impact factor: 11.205

8.  Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Authors:  Yi Wang; Cindy S Ma; Yun Ling; Aziz Bousfiha; Yildiz Camcioglu; Serge Jacquot; Kathryn Payne; Elena Crestani; Romain Roncagalli; Aziz Belkadi; Gaspard Kerner; Lazaro Lorenzo; Caroline Deswarte; Maya Chrabieh; Etienne Patin; Quentin B Vincent; Ingrid Müller-Fleckenstein; Bernhard Fleckenstein; Fatima Ailal; Lluis Quintana-Murci; Sylvie Fraitag; Marie-Alexandra Alyanakian; Marianne Leruez-Ville; Capucine Picard; Anne Puel; Jacinta Bustamante; Stéphanie Boisson-Dupuis; Marie Malissen; Bernard Malissen; Laurent Abel; Alain Hovnanian; Luigi D Notarangelo; Emmanuelle Jouanguy; Stuart G Tangye; Vivien Béziat; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2016-09-19       Impact factor: 14.307

9.  A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Authors:  Vivien Béziat; Juan Li; Jian-Xin Lin; Cindy S Ma; Peng Li; Aziz Bousfiha; Isabelle Pellier; Samaneh Zoghi; Safa Baris; Sevgi Keles; Paul Gray; Ning Du; Yi Wang; Yoann Zerbib; Romain Lévy; Thibaut Leclercq; Frédégonde About; Ai Ing Lim; Geetha Rao; Kathryn Payne; Simon J Pelham; Danielle T Avery; Elissa K Deenick; Bethany Pillay; Janet Chou; Romain Guery; Aziz Belkadi; Antoine Guérin; Mélanie Migaud; Vimel Rattina; Fatima Ailal; Ibtihal Benhsaien; Matthieu Bouaziz; Tanwir Habib; Damien Chaussabel; Nico Marr; Jamel El-Benna; Bodo Grimbacher; Orli Wargon; Jacinta Bustamante; Bertrand Boisson; Ingrid Müller-Fleckenstein; Bernhard Fleckenstein; Marie-Olivia Chandesris; Matthias Titeux; Sylvie Fraitag; Marie-Alexandra Alyanakian; Marianne Leruez-Ville; Capucine Picard; Isabelle Meyts; James P Di Santo; Alain Hovnanian; Ayper Somer; Ahmet Ozen; Nima Rezaei; Talal A Chatila; Laurent Abel; Warren J Leonard; Stuart G Tangye; Anne Puel; Jean-Laurent Casanova
Journal:  Sci Immunol       Date:  2018-06-15

Review 10.  Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults.

Authors:  Emilie Corvilain; Jean-Laurent Casanova; Anne Puel
Journal:  J Clin Immunol       Date:  2018-08-22       Impact factor: 8.317
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