Recurrent Mucocutaneus Aspergillosis in Dock8-Deficient Patient

Abstract

We report a case of DOCK8 deficiency, presenting severe fungal infection and a neuroblastoma. Male patient suffered severe eczema plus respiratory and ear infections from age 1 month. Aged 5 years a neuroblastoma was diagnosed and from age 6 years recurrent mucocutaneous aspergillosis with persistent leukocytosis, hyper eosinophilia, increased IgE level up to 25 000 IU/ml, low IgM and gradual decreasing T cell count were observed. Hyper IgE syndrome was considered and genetic testing revealed a large deletion of the DOCK8-gene.