Content area
Full Text
J Clin Immunol (2015) 35:189198 DOI 10.1007/s10875-014-0126-0
ORIGINAL RESEARCH
DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients
Susanne E. Aydin & Sara Sebnem Kilic & Caner Aytekin & Ashish Kumar & Oscar Porras &
Leena Kainulainen & Larysa Kostyuchenko & Ferah Genel & Necil Ktkcler &
Neslihan Karaca & Luis Gonzalez-Granado & Jordan Abbott & Daifulah Al-Zahrani &
Nima Rezaei & Zeina Baz & Jens Thiel & Stephan Ehl & Lszl Marodi & Jordan S. Orange &
Julie Sawalle-Belohradsky & Sevgi Keles & Steven M. Holland & zden Sanal &
Deniz C. Ayvaz & Ilhan Tezcan & Hamoud Al-Mousa & Zobaida Alsum & Abbas Hawwari &
Ayse Metin & Susanne Matthes-Martin & Manfred Hnig & Ansgar Schulz & Capucine Picard &
Vincent Barlogis & Andrew Gennery & Marianne Ifversen & Joris van Montfrans &
Taco Kuijpers & Robbert Bredius & Gregor Dckers & Waleed Al-Herz & Sung-Yun Pai &
Raif Geha & Gundula Notheis & Carl-Philipp Schwarze & Betl 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 &
On behalf of the inborn errors working party of EBMT
Received: 19 August 2014 /Accepted: 26 December 2014 /Published online: 28 January 2015 # Springer Science+Business Media New York 2015
Abstract Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and optimal therapeutic management have not yet
been clearly defined. In an international retrospective survey of patients with DOCK8 mutations, focused on clinical presentation and therapeutic measures, a total of 136 patients with a median follow-up of 11.3 years (1.347.7) spanning 1693
Electronic supplementary material The online version of this article (doi:http://dx.doi.org/10.1007/s10875-014-0126-0
Web End =10.1007/s10875-014-0126- 0) contains supplementary material, which is available to authorized users.
S. E. Aydin : J. Sawalle-Belohradsky : G. Notheis : V. Heinz :
R. Aydin : B. Hagl : B. H. Belohradsky : E. D. Renner : M. H. Albert Dr. von Haunersches Childrens Hospital, Ludwig-Maximilians-University,...