title: A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia.
abstract: We describe here four patients who appear to have similar clinical and immunological features which constitute a novel syndrome. The patients present with short stature owing to spondylometaphyseal dysplasia and with severe infections as the result of a combined humoral and cellular immune deficiency. Presumably because of dysregulation of the immune system, all patients also developed autoimmune manifestations.
authors.affiliation: Immunology and Allergy, Department of Paediatrics, Infection, Immunity, Injury and Repair Program, Research Institute, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada. chaim.roifman@sickkids.ca
authors.forename: C M
authors.initials: CM
authors.lastname: Roifman
authors.forename: I
authors.initials: I
authors.lastname: Melamed
mesh_terms: D000293:Adolescent; D001327:Autoimmune Diseases / Q000235:genetics / Q000503:physiopathology*; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D003141:Communicable Diseases / Q000276:immunology / Q000503:physiopathology; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D011859:Radiography