A 7-month-old boy presented with chronic diarrhea, failure to thrive and a generalized dermatitis with diffuse erythema. His family history was relevant for a brother deceased at 1 year of age with a similar phenotype. Physical examination revealed erythema, edema, induration and ulceration, on the BCG vaccination site applied at birth. A 207-gene primary immunodeficiency NGS panel identified a pathogenic variant c.1099T>C (p.Phe367Leu) in the forkhead domain of the FOXP3 gene, confirming the diagnosis of IPEX syndrome.
To our knowledge, BCG-site reactions have not previously been described as a clinical manifestation of IPEX syndrome.  In summary, BCGitis adds to the plethora of clinical manifestations of IPEX syndrome, but its pathogenesis may be different from other IEI.
Selma Scheffler-Mendoza, MD.
Clinical Immunology Department. Instituto Nacional de Pediatría
Insurgentes Sur 3700C, Insurgentes Cuicuilco, Coyoacán, 04530, Mexico City, Mexico.
drascheffler@hotmail.com. Conflict of interest: All the authors declare not having any conflict of interest.
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