title: Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.
abstract: On the basis of five cases personally observed and one previously reported, we describe a disorder characterized by skeletal dysplasia, rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. Defects of T-cell function were compatible with an autoimmune process. The disorder is probably of genetic origin and inherited as an autosomal recessive trait.
authors.affiliation: Children's Hospital, Dresden, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Spranger
authors.forename: G K
authors.initials: GK
authors.lastname: Hinkel
authors.forename: H
authors.initials: H
authors.lastname: Stöss
authors.forename: W
authors.initials: W
authors.lastname: Thoenes
authors.forename: D
authors.initials: D
authors.lastname: Wargowski
authors.forename: F
authors.initials: F
authors.lastname: Zepp
mesh_terms: D015703:Antigens, CD / Q000032:analysis; D001327:Autoimmune Diseases / Q000151:congenital / Q000235:genetics / Q000276:immunology; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000235:genetics / Q000276:immunology; D001842:Bone and Bones / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications* / Q000235:genetics / Q000276:immunology; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000235:genetics / Q000276:immunology; D007958:Leukocyte Count; D008297:Male; D010859:Pigmentation Disorders / Q000150:complications* / Q000235:genetics / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology / Q000502:physiology
chemical_list: D015703:Antigens, CD