title: Autoimmunity, HLA, Gm and Km polymorphisms in Turner's syndrome.
abstract: Considering the high frequency of autoimmune disorders in Turner's syndrome and the close relationship between autoimmunity, HLA and immunoglobulin constant region gene polymorphisms, we studied 46 patients with Turner's syndrome, by determination of autoantibodies, HLA histoglobulins and Gm and Km allotypes. OSA and in particular PCA resulted significantly more frequent in patients than in the controls. A higher frequency of HLA-A31, B38 antigens and of blanks at HLA-A locus was found in Turner's subjects than in the controls. A31 was significantly more frequent in autoantibody positive patients while B38 was more frequent in autoantibody negative Turner's subjects than in the controls. DR4 antigen was present only in autoantibody negative patients. Gm 3; 23; 5* phenotype was significantly less frequent, while Gm 3;..; 5* phenotype was more frequent in patients than in controls. Our data confirm the higher incidence of autoimmunity disorders in Turner's syndrome than in normal subjects. Particular HLA and immunoglobulin types seem to mark this condition. The increase in the blank frequency at A locus could be explained by the presence of a rare antigen at HLA-A locus or a particularly elevated homozygous condition in these subjects.
authors.affiliation: Pediatric Clinic, IRCCS Policlinico S. Matteo, University of Pavia, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Larizza
authors.forename: M
authors.initials: M
authors.lastname: Martinetti Bianchi
authors.forename: R
authors.initials: R
authors.lastname: Lorini
authors.forename: M
authors.initials: M
authors.lastname: Maghnie
authors.forename: J M
authors.initials: JM
authors.lastname: Dugoujon
authors.forename: M
authors.initials: M
authors.lastname: Cuccia Belvedere
authors.forename: F
authors.initials: F
authors.lastname: Severi
mesh_terms: D000293:Adolescent; D000328:Adult; D001327:Autoimmune Diseases / Q000150:complications / Q000235:genetics; D015551:Autoimmunity / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005819:Genetic Markers; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D007126:Immunoglobulin Allotypes / Q000235:genetics*; D007129:Immunoglobulin Gm Allotypes / Q000235:genetics; D007131:Immunoglobulin Km Allotypes / Q000235:genetics; D011110:Polymorphism, Genetic; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics / Q000276:immunology*
chemical_list: D005819:Genetic Markers; D006680:HLA Antigens; D007126:Immunoglobulin Allotypes; D007129:Immunoglobulin Gm Allotypes; D007131:Immunoglobulin Km Allotypes