title: [Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia. Case report of a boy with two affected brothers].
abstract: We report a now three year old male patient with ectodermal dysplasia and a polysaccharide specific humoral immunodeficiency. Immunological investigations showed compromised production of IgA, IgM, and IgG2. Isohaemagglutinins still were not detectable at the age of three years. Repeated vaccination with polyvalent pneumococcal polysaccharide vaccine did not result in production of specific antibodies. Two brothers showed clinical signs of ectodermal dysplasia. The elder brother died from pneumococcal sepsis at the age of 3 years. The younger brother suffers from chronic inflammatory gastrointestinal disease with ulcerations in all parts of the gastrointestinal system. Thus, a possible association between polysaccharide specific humoral immunodeficiency and ectodermal dysplasia may be considered.
authors.affiliation: Kinderklinik, Städtischen Kliniken Dortmund.
authors.forename: P
authors.initials: P
authors.lastname: Schweizer
authors.forename: H
authors.initials: H
authors.lastname: Kalhoff
authors.forename: G
authors.initials: G
authors.lastname: Horneff
authors.forename: V
authors.initials: V
authors.lastname: Wahn
authors.forename: L
authors.initials: L
authors.lastname: Diekmann
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use*; D000917:Antibody Formation / Q000276:immunology; D001428:Bacterial Vaccines / Q000276:immunology*; D002675:Child, Preschool; D017074:Common Variable Immunodeficiency / Q000276:immunology* / Q000628:therapy; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000276:immunology* / Q000628:therapy*; D006801:Humans; D017098:IgA Deficiency / Q000276:immunology; D017099:IgG Deficiency / Q000276:immunology; D007075:Immunoglobulin M / Q000172:deficiency / Q000276:immunology; D007223:Infant; D008297:Male; D022242:Pneumococcal Vaccines; D013296:Streptococcus pneumoniae / Q000276:immunology*; D016896:Treatment Outcome; D015662:Trimethoprim, Sulfamethoxazole Drug Combination / Q000627:therapeutic use*
chemical_list: D000900:Anti-Bacterial Agents; D001428:Bacterial Vaccines; D007075:Immunoglobulin M; D022242:Pneumococcal Vaccines; D015662:Trimethoprim, Sulfamethoxazole Drug Combination
vernacular_title: Polysaccharid-spezifischer humoraler Immundefekt bei ektodermaler Dysplasie. Fallbericht über einen Jungen mit zwei betroffenen Brüdern.