CLINICAL CASE OF BARE LYMPHOCYTE SYNDROME

Abstract

Article represents a clinical case of severe combined immune deficiency (SCID), deficiency of MHC class II molecules which was coupled with normal levels of TREC and KREC in a pediatric patient. Simultaneous determination of TREC and KREC in dried blood spots during neonatal screening makes it possible to diagnose various forms of congenital immunodeficiency disorders. For example, a dramatic decrease in TREC is observed in most SCIDs and combined immune deficiencies. However, in some SCIDs associated with a defect primarily in T-cell function rather than T-cell differentiation, TREC levels do not exceed established threshold levels and therefore some rare forms of SCIDs may be missed by neonatal screening programs and consequently lead to its late diagnosis.