Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11·2 microdeletion and partial DiGeorge syndrome

摘要: A subgroup of patients with 22q11.2 microdeletion and partial DiGeorge syndrome (pDGS) appears to be susceptible non-cardiac mortality (NCM) despite sufficient overall CD4(+) T cells. To detect these patients, 20 newborns congenital heart disease were followed prospectively for 6 years. Besides detailed clinical assessment, longitudinal monitoring naive cytotoxic CD3(+)CD8(+) cells (CTL) was performed. monitor thymic activity, we analysed platelet endothelial cell adhesion molecule-1 (CD31(+)) expressing CD45RA(+)RO(-)CD4(+) containing high numbers receptor excision circle (T(REC))-bearing lymphocytes compared them normal values healthy children (n = 75). Comparing two age periods, low observed in 65%/75%, respectively, period ( 1/< 7 years). The percentage CTLs (< P10) remained robust until school (period A: 60%; B: 50%). Low associated abnormally high-risk (HR) group 11) a standard-risk (SR) 9) identified. HR characterized by both prone lethal infectious lymphoproliferative complications (NCM: four 11; cardiac mortality: one while SR not none nine; nine). Naive CD31(+)CD45RA(+)RO(-)CD4(+), as well T(RECs)/10(6) mononuclear patients. Longitudinal may help discriminate pDGS at increased risk NCM.