Diagnosis of immunodeficiency conditions. Overview of the training event. Speakers I.N. Zakharova, I.A. Korsunsky

Abstract

Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic diseases. When PID is suspected, first of all, it is necessary to carefully collect the anamnesis, identify the features of clinical symptoms and the course of diseases in the child. To confirm the diagnosis, laboratory and instrumental methods of examination, immunological examination, and molecular genetic analysis are evaluated. As part of the immunological examination, as a screening method for detecting abnormalities in the T and B-cell parts of the immune system, a technique can be used to measure TREC (T-cell Receptor Excision Circle) and KREC (Kappa-deleting Recombination Excision Circle) levels by-products of T and B-cell receptor formation. A decrease in the amount of TREC and/or KREC in the blood indicates the presence of cellular PID. The assay can be performed using both whole blood and dried blood spots in children and adults.