Primary immunodeficiency: modern approaches to diagnosis and therapy

Первичные иммунодефициты: современные подходы в диагностике и терапии
Dinara Gabdullina 1, Oksana Ussenova 1, Marina Morenka 1, Yelena Kovzel 2
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1 Astana Medical University, Department of children’s diseases №1, Astana, Kazakhstan
2 Republican Diagnostic Center, Department of Allergology, pulmonology and orphan diseases, Astana, Kazakhstan
J CLIN MED KAZ, Volume 1, Issue 39, pp. 12-15.
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By definition, primary immunodeficiencies (PID) are a large group of severe, genetically determined diseases, the cause of which is the violation of the cascade of the immune response of the body. A WHO scientific group to date have identified about 250 nosological forms of the PID, the International Union of Immunological societies (International Societies Union of Immunological) recognized the relationship of primary immunodeficiency with more than 270 genes; we identified over 4500 mutations. Data of the International Foundation for primary immunodeficiency (Account Modell Fondation) indicate that, on Earth at least 10 million people suffer from some form of PID. If we compare the data of the European indices with the number of inhabitants of the Republic of Kazakhstan, currently in our country should be at least 3000 patients with a congenital defect of the immune system, thus, by 2015, was registered in 34 patients with PID. The clinical picture of PID has different forms of manifestation, the main syndromes are: infectious, neoplastic, allergic and autoimmune syndromes. Strategy in the treatment of PID depends mainly on the nature of the gene defect and suggests maintenance therapy (substitution therapy with immunoglobulins) and causal treatment (bone marrow transplantation/hematopoietic stem cells, gene therapy).


Gabdullina D, Ussenova O, Morenka M, Kovzel Y. Primary immunodeficiency: modern approaches to diagnosis and therapy. Journal of Clinical Medicine of Kazakhstan. 2016;1(39):12-5.


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