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Clin Immunol. 2019 Apr 2;203:9-13. doi: 10.1016/j.clim.2019.03.011. [Epub ahead of print]

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

Author information

1
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. Electronic address: ahoshino.ped@tmd.ac.jp.
2
Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
3
Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
4
Department of Pediatrics, School of Medicine, Fujita Health University, Toyoake, Japan.
5
Division of Pediatrics/Pediatric Medical Center, Ehime Prefectural Central Hospital, Matsuyama, Japan.
6
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
7
Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
8
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
9
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. Electronic address: m.takagi.ped@tmd.ac.jp.

Abstract

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.

KEYWORDS:

Autoantibody; Autoimmune disease; IPEX syndrome; Tolerance

PMID:
30951839
DOI:
10.1016/j.clim.2019.03.011

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