Bondarenko A. Diagnostics and medical and social support to primary immunodeficiency in children

The dissertation was done to develop the measures to enhance the quality of life for patients with PID by improving diagnosis and treatment of these diseases. On the basis of the creation of the registry which includes 820 patients the minimum prevalence of PID in Ukraine (1.2 per 100 000 population and 10 per 100 000 live births) was determined. Their nosologic structure, molecular genetic characteristics and medical needs were summarised. Indications for referral to consultation to children's immunologist were developed based on a detailed analysis of clinical manifestations of PID (402 patients) and identification the most informative clinical signs by comparing with healthy controls (915). Internationally, new PID due to STAT1 GOF mutation was described. Medical and social problems of families were assessed as well as health-related quality of life. Antibacterial choice of drugs recommendations for various groups of PID were developed under the basis of etiology of infectious syndrome and susceptibility to antimicrobial agents.