Three of these genes code for proteins involved in immune responses (CD99: T-cell adhesion, IL3RA: Receptor for Interleukin-3, CSF2RA: Colony stimulating factor 2 receptor) and thus may play a role in the predisposition for autoimmune disease in TS and, contribute concurrently to embryonic lethality. The gene discussed is IL3RA; the disease is autoimmune disease.