Diagnostics of congenital immune defects in a multidisciplinary hospital: a series of clinical case reports

Inborn errors of immunity (IEI) are rare heterogeneous diseases with a wide range of clinical manifestations that makes its diagnosis difficult for practitioners of different specialties. The purpose of this research was to describe a series of clinical case reports of primary immunodeficiencies (PIDs) diagnosis using the TREC/KREC assay in a multidisciplinary hospital. In order to verify the diagnosis, TREC/KREC determination, immunophenotyping and molecular genetic studies were performed. Thirty-nine patients with alarming signs of PIDs were examined within a period of 18 months. Primary immunodeficiencies were identified in 6 (31.6%) children with congenital malformations, in 5 (50%) with resistant cytopenias and in 3 (30%) with severe infections. Syndromal IDs were diagnosed in 8 (57.1%), combined immunodeficiency in a single patient (7.1%), immune regulation defects in 2 (14.3%) and antibody formation disorders in 3 (21.5%). Abnormal TREC/KREC values were established in 9 (64.3%) patients with IEI at the early stages of diagnostic search. Thus, TREC/KREC assay is an effective method for IEI diagnosis within a multidisciplinary hospital.