• Heidrun Boztug, Cäcilia Karitnig-Weiß, Bernd Ausserer, Ellen D Renner, Michael H Albert, Julie Sawalle-Belohradsky, Bernd H Belohradsky, Georg Mann, Ernst Horcher, Alexandra Rümmele-Waibel, Rene Geyeregger, Karoly Lakatos, Christina Peters, Anita Lawitschka, and Susanne Matthes-Martin.
• Department of Paediatrics, St Anna Kinderspital and Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria. heidrun.boztug@stanna.at
• Pediatr Hematol Oncol. 2012 Oct 1;29(7):585-94.

AbstractDedicator of cytokinesis 8 protein (DOCK8) deficiency is a combined immunodeficiency disorder characterized by an expanding clinical picture with typical features of recurrent respiratory or gastrointestinal tract infections, atopic eczema, food allergies, chronic viral infections of the skin, and blood eosinophilia often accompanied by elevated serum IgE levels. The only definitive treatment option is allogeneic hematopoietic stem cell transplantation (HSCT). We report a patient with early severe manifestation of DOCK8 deficiency, who underwent unrelated allogeneic HSCT at the age of 3 years following a reduced toxicity conditioning regimen. The transplant course was complicated by pulmonary aspergilloma pretransplantation, adenovirus (ADV) reactivation, and cytomegalovirus (CMV) pneumonitis 4 weeks after transplantation. With antifungal and antiviral treatment the patient recovered. Seven months after transplantation the patient is in excellent clinical condition. Eczematous rash, chronic viral skin infections, and food allergies have subsided, associated with normalization of IgE levels and absolute numbers of eosinophils. Chimerism analysis shows stable full donor chimerism. DOCK8 deficiency can be successfully cured by allogeneic HSCT. This treatment option should be considered early after diagnosis, as opportunistic infections and malignancies that occur more frequently during the natural course of the disease are associated with higher morbidity and mortality.

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