TUHH Open Research
Help
  • Log In
    New user? Click here to register.Have you forgotten your password?
  • English
  • Deutsch
  • Communities & Collections
  • Publications
  • Research Data
  • People
  • Institutions
  • Projects
  • Statistics
  1. Home
  2. TUHH
  3. Publication References
  4. Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency
 
Options

Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency

Publikationstyp
Journal Article
Date Issued
2019-03-01
Sprache
English
Author(s)
Aydin, Susanne E.  
Freeman, Alexandra F.  
Al-Herz, Waleed  
Al-Mousa, Hamoud A.  
Arnaout, Rand K.  
Aydin, Roland 
Barlogis, Vincent  
Belohradsky, Bernd  
Bonfim, Carmem  
Bredius, Robbert  
Chu, Julia I.  
Ciocarlie, Oana  
Doğu, Figen  
Gaspar, Hubert  
Geha, Raif  
Gennery, Andrew  
Hauck, Fabian  
Hawwari, Abbas  
Hickstein, Dennis  
Hoenig, Manfred  
Ikinciogullari, Aydan  
Klein, Christoph  
Kumar, Ashish  
Ifversen, Marianne  
Matthes-Martin, Susanne  
Metin, Ayse  
Neven, Benedicte  
Pai, Sung Yun  
Parikh, Suhag  
Picard, Capucine  
Renner, Ellen  
Sanal, Özden  
Schulz, Ansgar  
Schuster, Friedhelm  
Shah, Nirali  
Shereck, Evan  
Slatter, Mary  
Su, Helen  
van Montfrans, Joris  
Woessmann, Wilhelm  
Ziegler, John  
Albert, Michael  
TORE-URI
https://hdl.handle.net/11420/41125
Journal
Journal of Allergy and Clinical Immunology: In Practice
Volume
7
Issue
3
Start Page
1
End Page
17
Citation
Journal of Allergy and Clinical Immunology: In Practice: 7 (3) 1-17 (2019-03-01)
Publisher DOI
10.1016/j.jaip.2018.10.035
Scopus ID
2-s2.0-85058623217
Background: Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency with eczema, recurrent bacterial and viral infections, and malignancy. Natural disease outcome is dismal, but allogeneic hematopoietic stem cell transplantation (HSCT) can cure the disease. Objective: To determine outcome of HSCT for DOCK8 deficiency and define possible outcome variables. Methods: We performed a retrospective study of the results of HSCT in a large international cohort of DOCK8-deficient patients. Results: We identified 81 patients from 22 centers transplanted at a median age of 9.7 years (range, 0.7-27.2 years) between 1995 and 2015. After median follow-up of 26 months (range, 3-135 months), 68 (84%) patients are alive. Severe acute (III-IV) or chronic graft versus host disease occurred in 11% and 10%, respectively. Causes of death were infections (n = 5), graft versus host disease (5), multiorgan failure (2), and preexistent lymphoma (1). Survival after matched related (n = 40) or unrelated (35) HSCT was 89% and 81%, respectively. Reduced-toxicity conditioning based on either treosulfan or reduced-dose busulfan resulted in superior survival compared with fully myeloablative busulfan-based regimens (97% vs 78%; P =.049). Ninety-six percent of patients younger than 8 years at HSCT survived, compared with 78% of those 8 years and older (P =.06). Of the 73 patients with chimerism data available, 65 (89%) had more than 90% donor T-cell chimerism at last follow-up. Not all disease manifestations responded equally well to HSCT: eczema, infections, and mollusca resolved quicker than food allergies or failure to thrive. Conclusions: HSCT is curative in most DOCK8-deficient patients, confirming this approach as the treatment of choice. HSCT using a reduced-toxicity regimen may offer the best chance for survival.
Subjects
DOCK8 deficiency
Combined immunodeficiency
HSCT
DDC Class
610: Medicine, Health
TUHH
Weiterführende Links
  • Contact
  • Send Feedback
  • Cookie settings
  • Privacy policy
  • Impress
DSpace Software

Built with DSpace-CRIS software - Extension maintained and optimized by 4Science
Design by effective webwork GmbH

  • Deutsche NationalbibliothekDeutsche Nationalbibliothek
  • ORCiD Member OrganizationORCiD Member Organization
  • DataCiteDataCite
  • Re3DataRe3Data
  • OpenDOAROpenDOAR
  • OpenAireOpenAire
  • BASE Bielefeld Academic Search EngineBASE Bielefeld Academic Search Engine
Feedback