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

Bimaljit K. Pangli,Stephen R. Braddock,Alan P. Knutsen

The journal of allergy and clinical immunology. Global（2023）

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摘要

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.

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关键词

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

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