Sammanfattning
Two children are presented with autosomal recessive hyper IgE syndrome caused by a mutation in the dedicator of
cytokinesis 8 gene (DOCK8). The manifestations are typically severe atopic dermatitis, food allergies, elevated serum IgE
concentration, viral skin infections and risk of malignancies. DOCK8 deficiency was first reported in 2009, following the death of
the oldest sibling. The youngest sibling was cured after allogenic stem cell transplantation. This case report illustrates the need
of awareness of primary immunodefi-ciency in children with atypical manifestation of atopic dermatitis in combination with
recurrent infections.