Neonatal Levels of T-cell Receptor Excision Circles (TREC) in Patients with 22q11.2 Deletion Syndrome and Later Disease Features

摘要: Newborns with severe T-cell lymphopenia, including those 22q11.2 deletion syndrome (DS), have low numbers of receptor excision circles (TRECs). The aim this study was to determine a possible correlation between neonatal TRECs in 22q11.2DS and the development different phenotypes elucidate prognostic value TREC disease. In national survey 46 patients born after 2005, levels were determined using stored newborn screening blood spots on filter cards. Patients grouped into quartiles according their values, except two infants thymus aplasia. thymic aplasia had no detectable TREC. rest clinical immunodeficiency. There significant proportion CD3+CD4+T-cells below 5th percentile healthy (p = 0.027) as well an abnormal feature either or remnant observed during heart surgery (p = 0.022). Significantly lower (p = 0.019) found cardiac defects compared such defects. within lowest quartile values (<71 TRECs/μL, n = 11) more frequent than other (p = 0.010). Eight these needed operation/intervention weeks birth died because defect. not only correlate decreased immunity, but also occurrence patients.