. . . And a Diagnostic Test Was Performed

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Abstract
At a recent case conference with a distinguished visiting professor, a fellow in allergy and immunology presented the case of an infant with diarrhea; an unusual rash (“alligator skin”); multiple immunologic abnormalities, including low T-cell function; tissue eosinophilia (of the gastric mucosa) as well as peripheral eosinophilia; and an apparent X-linked genetic pattern (several male relatives died in infancy). The attending physicians and house staff discussed several diagnostic possibilities, but no consensus was reached. Finally, the visiting professor asked the fellow if she had made a diagnosis, and she reported that she had indeed and mentioned a rare syndrome known as IPEX (immunodeficiency, polyendocrinopathy, enteropathy, X-linked). It appeared to fit the case, and everyone seemed satisfied. (Several weeks later, genetic testing on the baby revealed a mutation in the FOXP3 gene, confirming the diagnosis.)

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