Рецидивні інфекції у дітей з хромосомними аномаліями пов’язані з анатомічними особливостями верхніх дихальних шляхів та нервово-м’язовими розладами, однак імунологічні відхилення можуть також підвищувати сприйнятливість до інфекцій. У статті проведено аналіз досліджень стану імунітету дітей з хромосомними аномаліями. За ключовими словами здійснено науковий пошук у міжнародних базах даних OMIM, Scopus і PubMed. При імунологічному обстеженні у дітей із синдромами Дауна, делеції 22q11.2, Ніймеген, Луї-Бар, Тернера, Вольфа-Гіршхорна, Якобсена, CHARGE, Корнелії де Ланге виявлено імунодефіцит, який проявляється змінами клітинного імунітету та гіпогаммаглобулінемією. У статті висвітлено патогенетичні механізми виникнення імунологічних відхилень у дітей з хромосомними аномаліями. Наголошено, що під час скринінгу новонароджених на важкі комбіновані імунодефіцити у дітей з хромосомними аномаліями виявляється Т-клітинна лімфопенія, тому вони входять до групи високого ризику виникнення імунодефіциту. Рання діагностика хромосомних захворювань дозволить визначити глибину імунологічних порушень, здійснити їх своєчасну корекцію, запобігти інфекційним ускладненням та поліпшити якість життя дітей.
Ключові слова: хромосомні аномалії, імунодефіцит, рецидивні інфекции, скринінг новонароджених
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