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

Bimaljit K Pangli; Stephen R Braddock; Alan P Knutsen

doi:10.1016/j.jacig.2023.100153

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

J Allergy Clin Immunol Glob. 2023 Jul 24;2(4):100153. doi: 10.1016/j.jacig.2023.100153. eCollection 2023 Nov.

Authors

Bimaljit K Pangli¹, Stephen R Braddock², Alan P Knutsen¹

Affiliations

¹ Division of Allergy and Immunology, Saint Louis University, St Louis, Mo.
² Division of Genetics, Department of Pediatrics, Saint Louis University, St Louis, Mo.

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

Publication types

Case Reports