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Congenital immunodeficiency disorders in the pediatric practice
(2022) Lupaltsova, Olga; Drobova, Nadiia; Servetnyk, Anzhela
Introduction. Congenital immunodeficiency disorders are genetic pathology that affect the immune system function and is important problem of modern medicine.Material and methods. This dates are performed the clinical case of the child with congenital complement deficiency. Results. Patient was diagnosed with allergic skin symptoms (atopic dermatitis, eczema), persistent bacterial infections of the upper and lower respiratory tract, late teething, diarrhea, chronic diseases of the gastrointestinal tract. That signs were manifestations of immunodeficiency states. During clinical and paraclinical examination the following data was detected in immunological blood test: decreased levels of CD3+-lymphocytes, CD3+CD8+-cytotoxic lymphocytes, CD19 +-lymphocytes. Gene panel of boy identifies one pathogenic variant in С8B (c. 1282C>T (p.Arg428*)), heterozygous, one pathogenic variant in C3 (c.2402C>T (p.Thr801Met)), heterozygous, which is associated with autosomal recessive and dominant. Uncertain significance variants were detected. Genetic signs in family members were also detected. Conclusion. Genetic testing for identifying of congenital defects is very important in primary immunodeficiency diagnostic process.