Literature DB >> 22534316

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

Waleed Al-Herz1, Raj Ragupathy, Michel J Massaad, Raja'a Al-Attiyah, Arti Nanda, Karin R Engelhardt, Bodo Grimbacher, Luigi Notarangelo, Talal Chatila, Raif S Geha.   

Abstract

Deficiency of dedicator of cytokinesis 8 (DOCK8) is a newly described combined primary immunodeficiency disease. It was found to account for 15% of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular characteristics of 9 Kuwaiti patients with DOCK8 deficiency and discuss differences that distinguish DOCK8 deficiency from atopic dermatitis. Clinical immunologists in areas with high incidence of consanguinity should have a high index of suspicion of DOCK8 deficiency in children with recalcitrant eczema, recurrent non-cutaneous infections and lymphopenia.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID： 22534316      PMCID： PMC3893030          DOI： 10.1016/j.clim.2012.03.002

Source DB:  PubMed          Journal:  Clin Immunol        ISSN： 1521-6616            Impact factor:   3.969


  14 in total

Review 1.  Dedicator of cytokinesis 8 (DOCK8) deficiency.

Authors:  Helen C Su
Journal:  Curr Opin Allergy Clin Immunol       Date:  2010-12

2.  Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.

Authors:  Monia Ouederni; Quentin B Vincent; Pierre Frange; Fabien Touzot; Sami Scerra; Mohamed Bejaoui; Aziz Bousfiha; Yves Levy; Barbara Lisowska-Grospierre; Danielle Canioni; Julie Bruneau; Marianne Debré; Stéphane Blanche; Laurent Abel; Jean-Laurent Casanova; Alain Fischer; Capucine Picard
Journal:  Blood       Date:  2011-09-08       Impact factor: 22.113

3.  Parental consanguinity and the risk of primary immunodeficiency disorders: report from the Kuwait National Primary Immunodeficiency Disorders Registry.

Authors:  Waleed Al-Herz; Kamal K Naguib; Luigi D Notarangelo; Raif S Geha; Amal Alwadaani
Journal:  Int Arch Allergy Immunol       Date:  2010-07-27       Impact factor: 2.749

4.  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

5.  Combined immunodeficiency associated with DOCK8 mutations.

Authors:  Qian Zhang; Jeremiah C Davis; Ian T Lamborn; Alexandra F Freeman; Huie Jing; Amanda J Favreau; Helen F Matthews; Joie Davis; Maria L Turner; Gulbu Uzel; Steven M Holland; Helen C Su
Journal:  N Engl J Med       Date:  2009-09-23       Impact factor: 91.245

6.  The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.

Authors:  Jerry A Winkelstein; Mary C Marino; Hans Ochs; Ramsey Fuleihan; Paul R Scholl; Raif Geha; E Richard Stiehm; Mary Ellen Conley
Journal:  Medicine (Baltimore)       Date:  2003-11       Impact factor: 1.889

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

Authors:  Teresa Lambe; Greg Crawford; Andy L Johnson; Tanya L Crockford; Tiphaine Bouriez-Jones; Aisling M Smyth; Trung H M Pham; Qian Zhang; Alexandra F Freeman; Jason G Cyster; Helen C Su; Richard J Cornall
Journal:  Eur J Immunol       Date:  2011-11-10       Impact factor: 5.532

Review 8.  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

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

Authors:  Katrina L Randall; Teresa Lambe; Andy L Johnson; Andy Johnson; Bebhinn Treanor; Edyta Kucharska; Heather Domaschenz; Belinda Whittle; Lina E Tze; Anselm Enders; Tanya L Crockford; Tiphaine Bouriez-Jones; Duncan Alston; Jason G Cyster; Michael J Lenardo; Fabienne Mackay; Elissa K Deenick; Stuart G Tangye; Tyani D Chan; Tahra Camidge; Robert Brink; Carola G Vinuesa; Facundo D Batista; Richard J Cornall; Christopher C Goodnow
Journal:  Nat Immunol       Date:  2009-11-08       Impact factor: 25.606

10.  Primary immunodeficiency disorders in Kuwait: first report from Kuwait National Primary Immunodeficiency Registry (2004--2006).

Authors:  Waleed Al-Herz
Journal:  J Clin Immunol       Date:  2007-11-16       Impact factor: 8.317
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  24 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.  Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation.

Authors:  Sevgi Keles; Louis Marie Charbonnier; Venkataraman Kabaleeswaran; Ismail Reisli; Ferah Genel; Nesrin Gulez; Waleed Al-Herz; Narayanaswamy Ramesh; Antonio Perez-Atayde; Neslihan E Karaca; Necil Kutukculer; Hao Wu; Raif S Geha; Talal A Chatila
Journal:  J Allergy Clin Immunol       Date:  2016-05-24       Impact factor: 10.793

Review 3.  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

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

Review 5.  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

6.  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

Review 7.  Current Status of Dedicator of Cytokinesis-Associated Immunodeficiency: DOCK8 and DOCK2.

Authors:  Dimana Dimitrova; Alexandra F Freeman
Journal:  Dermatol Clin       Date:  2017-01       Impact factor: 3.478

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

Authors:  Melissa C Mizesko; Pinaki P Banerjee; Linda Monaco-Shawver; Emily M Mace; William E Bernal; Julie Sawalle-Belohradsky; Bernd H Belohradsky; Valerie Heinz; Alexandra F Freeman; Kathleen E Sullivan; Steven M Holland; Troy R Torgerson; Waleed Al-Herz; Janet Chou; Imelda C Hanson; Michael H Albert; Raif S Geha; Ellen D Renner; Jordan S Orange
Journal:  J Allergy Clin Immunol       Date:  2013-02-04       Impact factor: 10.793

9.  Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency.

Authors:  Waleed Al-Herz; Julia I Chu; Jet van der Spek; Raj Raghupathy; Michel J Massaad; Sevgi Keles; Catherine M Biggs; Lucinda Cockerton; Janet Chou; Ghassan Dbaibo; Scott A Elisofon; Rima Hanna-Wakim; Heung Bae Kim; Leslie E Lehmann; Douglas R McDonald; Luigi D Notarangelo; Paul Veys; Talal A Chatila; Raif S Geha; H Bobby Gaspar; Sung-Yun Pai
Journal:  J Allergy Clin Immunol       Date:  2016-04-06       Impact factor: 10.793

10.  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
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