Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome

• Published in: Clinical immunology (Orlando, Fla.) Fla.), 2019-06, Vol.203, p.9-13
• Main Authors: Hoshino, Akihiro, Kanegane, Hirokazu, Nishi, Masanori, Tsuge, Ikuya, Tokuda, Kiriko, Kobayashi, Ichiro, Imai, Kohsuke, Morio, Tomohiro, Takagi, Masatoshi
• Format: Article
• Language: English
• Subjects: Adolescent; Adrenal Glands - immunology; Afibrinogenemia; Autoantibodies - blood; Autoantibody; Autoimmune disease; Autoimmune Diseases - diagnosis; Autoimmune Diseases - immunology; Diabetes Mellitus, Type 1 - congenital; Diabetes Mellitus, Type 1 - diagnosis; Diabetes Mellitus, Type 1 - immunology; Diarrhea - diagnosis; Diarrhea - immunology; Female; Genetic Diseases, X-Linked - diagnosis; Genetic Diseases, X-Linked - immunology; Humans; Immune System Diseases - congenital; Immune System Diseases - diagnosis; Immune System Diseases - immunology; Immune Tolerance; Infant; Intestinal Diseases; IPEX syndrome; Male; Microarray Analysis; Muscle Hypotonia; Proteome; Serologic Tests - methods; T-Lymphocytes, Regulatory - physiology; Tolerance
• ISSN: 1521-6616; 1521-7035
• DOI: 10.1016/j.clim.2019.03.011

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is one of the inborn errors of immunity, characterized by impaired function of the regulatory T cells. Clinical manifestations of IPEX syndrome are characterized by various autoimmune diseases with autoantibodies. The comprehensive analysis for autoantibodies using human proteome microarrays in the four patients with IPEX syndrome was performed. The numbers of the highly expressed autoantibody showing relative log2 ratios greater than 1 were 1876, 513, 234 and 831 (mean: 864), respectively. Some novel autoantibodies which could explain the phenotypes of patients, adrenal dysfunction, muscular hypotonia, afibrinogenemia, enteropathy and pancytopenia were identified. Various kinds of autoantibodies targeting testis-specific antigens were also identified. Human proteome microarray is a powerful tool to understand the pathophysiology of IPEX syndrome. The larger cohort analysis using this method will provide further understanding of the impaired immune tolerance in humans. •Human proteome microarrays identified various autoantibodies in patients with IPEX syndrome.•Human proteome microarrays identified some novel autoantibodies which could explain the phenotypes of patients.•Various kinds of autoantibodies targeting testis-specific antigens were identified in patients with IPEX syndrome.