SOVREMENNAYA PEDIATRIYA.2017.3(83):84-90; doi 10.15574/SP.2017.83.84

Bondarenko A., Chernyshova L., Hilfanova A., Niconez L., Sharapova S.
Shupyk National Medical Academy of Postgraduate Education, Kyiv, Ukraine
Kyiv Municipal Children's Centre of Clinical Immunology, Kyiv Municipal Children's Clinical Hospital No. 1, Ukraine
Chernigiv Municipal Children's Outpatient Department, Ukraine
Research Center for Pediatric Oncology, Hematology and Immunology under the Ministry of Healthcare of Republic of Belarus, Minsk, Republic of Belarus

Autoimmune polyglandular syndrome type I (APS-1) is a rare autosomal recessive disorder caused by mutation in the autoimmune regulation gene (AIRE), resulting in autoimmune attacks to the various target organs. The article presents the current understanding of the etiology and pathogenesis of APS-1, as well as the spectrum of clinical manifestations of the syndrome based on literature overview and our own clinical observations. The described clinical cases illustrate the phenotypic variability of the disease, including the possible failure of the typical manifestations. Molecular genetic methods allow to extend the diagnostic criteria and make the early diagnosis possible, especially in atypical cases.

Key words: primary immunodeficiency, autoimmunity, polyendocrinopathy, candidiasis, ectodermal dystrophy.

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