Case Report

IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom

Table 3

Male patients reported with IPEX syndrome with a mutation in FOXP3 gene c.1190G > A (p. R397Q).

CaseAge at onset of diseaseOrgan involvementOthersReference #

14 years+Type 1 diabetes+18
21 month++19
36 years+Failure to thrive, recurrent infections (Clostridium difficile, Candida albicans, and Mycoplasma pneumoniae)20
Our patient2 months+Failure to thrive