Nijmegen Breakage Syndrome Identification Using Excision Circles Levels of T and B Cells Recombination
Objective of the Paper: To demonstrate the need in high alert of general practitioners regarding primary immunodeficiency disorders as well as the importance of introduction of the test for TREC and KREC in laboratories of primary level centres. Key Points: Primary immunodeficiency disorder, Nijmegen breakage syndrome, is a rare disease resulting in disability and death. The therapy efficiency depends on timely diagnosis. The clinical case examined proves the available information on TREC and KREC level reduction in patients with Nijmegen breakage syndrome. Inexpensive and easy laboratory test for TREC and KREC levels allows suspecting cell immunity disorders prior to lymphocite phenotyping using flow cytometry. Conclusion. Introduction of TREC and KREC tests into laboratories of primary and secondary level centres will result in expanding the diagnostic capacity of general practitioners in identification of patients with cell immunity disorders.