Kostyuchenko L. Detection, verification and medical support of primary combined immunodeficiencies in children

Dissertation is dedicated for efficiency increasing of early detection of primary combined immunodeficiencies (СID) in children by identifying of their early clinical markers and treatment improvement. Retrospective and prospective studies of clinical manifestations and diseases course were performed in 121 children with СID. Early clinical signs for the most forms of СID were defined. Selective screening for marker signs among patients with microcephaly, ataxia, thrombocytopenia, congenital heart defects and cleft palate was proposed. It was shown informational content of immunity and genetic tests for the CID diagnostics. All patients with NBS are homozygotic carriers of 657del5 mutation of NBN-gene. Testing of 6 ATM-gene mutations for patients with AT was found its informative insufficiency. WAS-gene mutations were revealed in all patients with WAS, including 4 new ones. Algorithms for medical support of children with СID were developed.