Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.
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.
Spranger
J
J
Children's Hospital, Dresden, Germany.
Hinkel
G K
GK
Stöss
H
H
Thoenes
W
W
Wargowski
D
D
Zepp
F
F
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
D015703:Antigens, CD