We describe the case of a 10-month-old boy with vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities (VACTERL) association and athymia who developed Omenn syndrome.
Keywords: 22q11.2 deletion syndrome; Athymia; DiGeorge syndrome; Omenn syndrome; T-cell receptor rearrangement excision circle; VACTERL association; cultured thymic epithelial transplantation.
© 2023 The Author(s).