Blood: immune deficiency and lymphoma in children due to loss of function of the germ lineTE TET2

Molecular anatomy of immunity birth defects helps to clarify the non-redundant function of individual genesSpegarova and others studied three children with immunodisordersyndrome who exhibit lymphoma (2 bits of B cells, 1 stenocyst of T cells) that are susceptible to infection, lymph node disease, enlarged liver and spleen, stunted, autoimmune and B-cell or T-cell-derivedAfter the allogeneic hematopoietic stem cell transplant, all three children experienced early kinyt T-cell reconstruction
Through full exosome sequencing, the researchers found rare, pure, endogenetic or unrighteous variations in DNA hydroxylmethylase TET2TET2 catalyzes 5-methyl cytosine (5mC) on RNA to form 5-hydroxymethylcytosine (5hmC), which has important functions in turning on the natural immune responseThe mutated TET2 protein does not express or has 5-hydroxymethylation active enzyme-promoting defects, resulting in overall high methylation of blood DNAIn both children, circulating T cells exhibited abnormal immune phenotypes, including double-negative cell amplification, follicle-assisted T-cell cavity failure, and damage to Fas-dependent apoptosisIn addition, the missing B cells of TET2 exhibited a switch-like recombination defectThe hematopoietic potential of induced pluripotent stem cells in children's sources tilts toward myelin cellsThis is the first reported case of human-induced clinically significant immunodeficiency and autoimmune lymphatic hyperplasia syndrome, and an autosomal recessive embryo TET2 defect with significant lymphoma susceptibilityThe phenotype of the disease further supports the widespread role of TET2 in the human immune system