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Aim. Primary immunodeficiencies are disorders in which immune system is missing or does not function normally due to genetic disorders. X-linked agammaglobulinemia (XLA) is a rare genetic disorder in which don’t generate of mature B cells, which manifests as a complete or near-complete lack of proteins called gamma globulins, including antibodies, in their bloodstream. The BTK protein is the key regulator of β-cell maturation, so mutations in the BTK gene lead to hereditary agammaglobulinemia. Detection of mutations of the BTK gene is important for confirmation of the diagnosis in patients with XLA. Methods. DNA and RNA extraction, RT-PCR, direct Sanger sequencing of PCR fragments. Results. An analysis of blood samples from patients with XLA using a proposed test system was performed. It has been shown that the proposed test system allows for the initial screening of mutations in the BTK gene. Conclusions. The test system for the detection of mutations in patients with X-linked agammaglobulinemia, based on using of reverse transcriptase PCR and direct sequencing, was developed and tested on clinical samples. This system is proposed for the initial screening of BTK gene mutations inUkraine. Keywords: X-linked agammaglobulinemia, XLA, BTK, mutation, RT-PCR, primary immunodeficiency.

The broadest observation of Kawasaki disease (KD) in children in Ukraine is presented that included 23 clinical cases in Kyiv. The frequency of complete KD was 56% and incomplete one was 44%. The coronary vessel affection rate was 33% and the highest one was revealed in infants — 83%. The symptoms and laboratory manifestations of KD are analyzed. The characteristics of the incomplete KD diagnosis are presented. The prevalence of KD in Kyiv in 2016 is calculated to be 4.6 per 100,000 children under 5 years of age and the expected prevalence of KD in Ukraine in 2016 — 103 cases.

Vaccination is one of the most effective methods of preventing infectious diseases, the effectiveness of which is confirmed by time. The article says about modern technology of vaccines that need to know the doctor to objectively and accurately inform patients before vaccination, to answer a number of questions from patients related to the phobias of the population about vaccination.

Лекція «Імунологічні основи вакцинації» рекомендована для післядипломної освіти педіатрів та лікарів загальної практики.

Chronic mucocutaneous candidiasis is a genetically heterogeneous group of disorders associated with mutations in genes STAT1, IL17RA, IL17F, AIRE, STAT3, TYK2, IL12RB1, and IL12B. Chronic mucocutaneous candidiasis can present as a clinical syndrome in primary and secondary immunodeficiency, or distinct nosological entity of primary immunodeficiency. Today the major components of immunopathology of chronic mucocutaneous candidiasis are defects of immune response, mediated by IL-17 and IL-22. The article describes two cases of chronic mucocutaneous candidiasis, associated with mutations in gene STAT1, in children.