Omenn syndrome in a 10-month-old male with athymia and VACTERL association

Abstract

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

• Athymia
• cultured thymic epithelial transplantation
• DiGeorge syndrome
• 22q11.2 deletion syndrome
• Omenn syndrome
• T-cell receptor rearrangement excision circle