Successful restoration of immunity in the DiGeorge syndrome with fetal thymic epithelial transplant.
A 13-month-old girl presented with right upper lobe pneumonia and hypocalcaemic seizures: investigations showed hypoparathyroidism and impaired cell-mediated immune responses. Other features of the DiGeorge syndrome included hypertelorism, short philtrum of the lip, right-sided aortic arch, and aberrant origin of the left subclavian artery. Successful restoration of the immunodeficiency was achieved by transplantation of fetal thymic epithelium.
D004062:DiGeorge Syndrome / Q000276:immunology / Q000628:therapy*; D004848:Epithelium / Q000637:transplantation; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000628:therapy*; D007223:Infant; D008198:Lymph Nodes / Q000473:pathology; D008213:Lymphocyte Activation; D013950:Thymus Gland / Q000637:transplantation*; D014184:Transplantation, Homologous