title: [Severe atopic dermatitis caused by rare immunodeficiency in childhood].
abstract: 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 immunodeficiency in children with atypical manifestation of atopic dermatitis in combination with recurrent infections.
authors.affiliation: helene.wolsk@dbac.dk.
authors.forename: Helene Mygind
authors.initials: HM
authors.lastname: Wolsk
authors.forename: Hanne V
authors.initials: HV
authors.lastname: Marquart
authors.forename: Bodil
authors.initials: B
authors.lastname: Laub
authors.forename: Robert
authors.initials: R
authors.lastname: Gniadecki
authors.forename: Karsten
authors.initials: K
authors.lastname: Nysom
authors.forename: Marianne
authors.initials: M
authors.lastname: Ifversen
mesh_terms: D003876:Dermatitis, Atopic / Q000276:immunology* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000172:deficiency / Q000235:genetics; D006801:Humans; D007223:Infant; D007589:Job Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy; D008297:Male; D035583:Rare Diseases
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors