title: [Severe atopy and allergy--rare hyper-IgE syndrome caused by the DOCK8 mutation as underlying condition].
abstract: The DOCK8 hyperimmunoglobulin E syndrome is an autosomal recessive primary combined immunological deficiency. Severe atopic eczema having its onset in infancy, food allergies, chronic viral infections of the skin, and recurrent pneumonias are central symptoms. Serum IgE level is high and eosinophilia is found in the blood. In addition, abnormalities in the number and function of lymphocytes can be detected. The disease may be difficult to distinguish from severe allergic eczema and asthma. The diagnosis is made through a gene test. We describe a 13-year-old boy, whose disease was cured with allogenic stem cell transplantation.
authors.forename: Minna
authors.initials: M
authors.lastname: Koskenvuo
authors.forename: Leena
authors.initials: L
authors.lastname: Kainulainen
authors.forename: Timo
authors.initials: T
authors.lastname: Vanto
authors.forename: Heikki
authors.initials: H
authors.lastname: Lukkarinen
authors.forename: Päivi
authors.initials: P
authors.lastname: Lähteenmäki
authors.forename: Olli
authors.initials: O
authors.lastname: Ruuskanen
mesh_terms: D000293:Adolescent; D001249:Asthma / Q000175:diagnosis; D004485:Eczema / Q000175:diagnosis; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood / Q000276:immunology; D007589:Job Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000628:therapy*; D008297:Male; D033581:Stem Cell Transplantation
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; D007073:Immunoglobulin E