Larizza D, Martinetti Bianchi M, Lorini R, Maghnie M, Dugoujon J M, Cuccia Belvedere M, Severi F
Pediatric Clinic, IRCCS Policlinico S. Matteo, University of Pavia, Italy.
Autoimmunity. 1989;4(1-2):69-78. doi: 10.3109/08916938909034361.
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.
鉴于特纳综合征中自身免疫性疾病的高发病率以及自身免疫、人类白细胞抗原（HLA）和免疫球蛋白恒定区基因多态性之间的密切关系，我们通过检测自身抗体、HLA组织球蛋白以及Gm和Km同种异型，对46例特纳综合征患者进行了研究。结果发现，患者中阻塞性睡眠呼吸暂停（OSA），尤其是原发性胆汁性肝硬化（PCA）的发生率显著高于对照组。与对照组相比，特纳综合征患者中HLA-A31、B38抗原以及HLA-A位点空白的频率更高。A31在自身抗体阳性患者中显著更常见，而B38在自身抗体阴性的特纳综合征患者中比对照组更常见。DR4抗原仅存在于自身抗体阴性的患者中。Gm 3; 23; 5表型的频率显著更低，而Gm 3;..; 5表型在患者中比对照组更常见。我们的数据证实，特纳综合征中自身免疫性疾病的发病率高于正常受试者。特定的HLA和免疫球蛋白类型似乎标志着这种情况。A位点空白频率的增加可以通过HLA-A位点存在罕见抗原或这些受试者中特别高的纯合状态来解释。
