Pediatria. Journal named after G.N. Speransky | VOL. 101
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МЕДИКО-ГЕНЕТИЧЕСКИЙ КОНТРОЛЬ ВРОЖДЕННЫХ ДЕФЕКТОВ ИММУНИТЕТА – БУДУЩЕЕ НАПРАВЛЕНИЕ НАУЧНОЙ И КЛИНИЧЕСКОЙ ПЕДИАТРИИ

Publication Date Jun 17, 2022

Abstract

The new International Classification of Diseases, 11th Revision (ICD-11) has started in Russia and worldwide in January, 2022. The section Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89) now includes more than 400 genetic disorders leading to disruption of cell cycle regulation, systemic inflammation and primary immunodeficiency (PID) with clinical manifestations as severe infections, autoinflammatory, autoimmune, allergic and oncological diseases. The PID verification tools include records on the epidemiology of inborn defects of immunity based on the national PID register, on the development and practical implementation of original domestic tests on T and B lymphocyte abnormalities and the diagnostic genetic panel for differential diagnostics of PID, as well as on conducting multicenter studies on the effectiveness of immunoglobulin drugs and transplantation of hematopoietic stem cells in patients with PID and the results of pilot studies of neonatal screening of PID in Russia. The article presents the computational indicators of children at risk and working algorithms for differential clinical and genetic diagnostics of PID and clinical decision-making designed to provide dynamic follow-up and treatment of this group of patients and to reduce infant and child mortality.

Concepts

Primary Immunodeficiency Disruption Of Cell Cycle Regulation Hematopoietic Stem Cells In Patients Transplantation Of Hematopoietic Stem Cells Blood-forming Organs Lymphocyte Abnormalities 11th Revision Pilot Studies Of Screening Severe Autoinflammatory Diseases Oncological Diseases

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No potential conflict of interest was reported by the authors. The conception and design of the study, acquisition of data, analysis and interpretatio...

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