Newborn screening for inborn errors of immunity in the Republic of Belarus: a two-year pilot study
and initial clinical results

Polyakova E.A., Volodashchik T.P., Zobikova O.L., Kalinina E.A., Liubushkin A.V., Zharankova Yu.S., Aleshkevich S.N., Sakovich I.S., Kupchinskaya A.N., Ryzhko О.N., Guryanova I.E., Belevtsev M.V., Sharapova S.O., Pribushenya O.V., Solntsava A.V.

Belarusian Research Center for Pediatric Oncology and Hematology, Minsk, Belarus
Belarusian State Medical University, Minsk, Belarus
Republican Scientific and Practical Center "Mother and Child", Minsk, Belarus
Brest Regional Children's Hospital, Brest, Belarus

Purpose. To evaluate the results of a 2-year pilot study screening for congenital immune defects in newborns using TREC and KREC levels in dried blood spots.

Materials and Methods. The study involved peripheral blood samples from newborns in Minsk, Brest, and the Brest Region.

Results and discussion. For the first time in the Republic of Belarus, a pilot project screening newborns for congenital immune defects using the simultaneous determination of TREC and KREC in dried blood spots was implemented. Over 24 months (January 2023 – December 2025), 29550 newborns from two regions of the country were screened. Two confirmed cases of congenital immune defects (DiGeorge syndrome and X-linked agammaglobulinemia) were identified. Fourteen children required repeat blood sampling, and in 12 of these cases, the levels returned to normal. The incidence of laboratory-confirmed inborn errors of the immune system was 1 in 14775.

Conclusions. The pilot project for screening newborns for inborn errors of the immune system demonstrated the technical feasibility and clinical significance of dual TREC/KREC screening in a public healthcare system.