Literature DB >> 28664550

Hematopoietic stem cell transplantation from unrelated donors in children with DOCK8 deficiency.

Dilara Fatma K Uygun1, Vedat Uygun2, İsmail Reisli3, Sevgi Keleş3, Ahmet Özen4, Mustafa Yılmaz5, Esra H Sayar3, Hayriye Daloğlu2, Seda I Öztürkmen2, Suar Çakı6, Gülsün T Karasu6, Akif Yeşilipek2.   

Abstract

DIDS is a unique form of combined immune deficiency characterized by an unusual susceptibility to cutaneous viral infections, severe allergies with eosinophilia and elevated immunoglobulin E titers, autoimmunity, and cancer. HSCT is considered the standard of care for this deadly disease. We have retrospectively analyzed the outcome of allogeneic HSCT from unrelated donors in patients with DIDS. Data from four patients, with five transplants, are presented. All patients received transplants from unrelated donors' BM, except for one patient who received a cord blood transplant. The conditioning regimens were based on myeloablative protocols for BM derived transplants; a NM regimen was pursued for the patient who received a cord blood transplant, which resulted in graft rejection. Although recurrent pneumonia and skin infections resolved immediately after transplantation, all patients subsequently developed human herpesvirus infection, including cutaneous herpetic lesions, cytomegalovirus reactivation, and zona zoster, which could be attributed to the use of ATG. Despite the presence of serious morbidities prior to transplantation, all patients recovered successfully. DIDS can be successfully treated with allogeneic HSCT from unrelated donors following a myeloablative conditioning regimen, with a reasonable safety profile.
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  DOCK8 deficiency; HSCT; hyperimmunoglobulin E syndrome; unrelated donor

Mesh:

Substances:

Year:  2017        PMID: 28664550     DOI: 10.1111/petr.13015

Source DB:  PubMed          Journal:  Pediatr Transplant        ISSN: 1397-3142


  7 in total

Review 1.  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

2.  Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.

Authors:  Bethany A Pillay; Danielle T Avery; Joanne M Smart; Theresa Cole; Sharon Choo; Damien Chan; Paul E Gray; Katie Frith; Richard Mitchell; Tri Giang Phan; Melanie Wong; Dianne E Campbell; Peter Hsu; John B Ziegler; Jane Peake; Frank Alvaro; Capucine Picard; Jacinta Bustamante; Benedicte Neven; Andrew J Cant; Gulbu Uzel; Peter D Arkwright; Jean-Laurent Casanova; Helen C Su; Alexandra F Freeman; Nirali Shah; Dennis D Hickstein; Stuart G Tangye; Cindy S Ma
Journal:  JCI Insight       Date:  2019-04-25

3.  Tandem Orthotopic Living Donor Liver Transplantation Followed by Same Donor Haploidentical Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency.

Authors:  Alexandra F Freeman; Nada Yazigi; Nirali N Shah; David E Kleiner; Mark Parta; Prescott Atkinson; Theo Heller; Steven M Holland; Stuart S Kaufman; Khalid M Khan; Dennis D Hickstein
Journal:  Transplantation       Date:  2019-10       Impact factor: 4.939

4.  Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.

Authors:  Beate Hagl; Benedikt D Spielberger; Silvia Thoene; Sophie Bonnal; Christian Mertes; Christof Winter; Isaac J Nijman; Shira Verduin; Andreas C Eberherr; Anne Puel; Detlev Schindler; Jürgen Ruland; Thomas Meitinger; Julien Gagneur; Jordan S Orange; Marielle E van Gijn; Ellen D Renner
Journal:  Sci Rep       Date:  2018-11-13       Impact factor: 4.379

Review 5.  Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.

Authors:  Riccardo Castagnoli; Ottavia Maria Delmonte; Enrica Calzoni; Luigi Daniele Notarangelo
Journal:  Front Pediatr       Date:  2019-08-08       Impact factor: 3.418

6.  Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency.

Authors:  Sule Haskologlu; Sevgi Kostel Bal; Candan Islamoglu; Caner Aytekin; Sukru Guner; Selin Sevinc; Sevgi Keles; Tanil Kendirli; Serdar Ceylaner; Figen Dogu; Aydan Ikinciogullari
Journal:  Pediatr Allergy Immunol       Date:  2020-03-11       Impact factor: 5.464

Review 7.  Wiskott-Aldrich Syndrome (WAS) and Dedicator of Cytokinesis 8- (DOCK8) Deficiency.

Authors:  Michael H Albert; Alexandra F Freeman
Journal:  Front Pediatr       Date:  2019-11-05       Impact factor: 3.418

  7 in total

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