FOXP3 mutations underlie IPEX syndrome — a rare, severe immune dysregulation disorder that classically presents in male neonates or infants with autoimmune diabetes, diarrhea, eczema, and immune deficiency. Identifying the genetic cause shapes all treatment decisions.
In male infants presenting with neonatal or infancy-onset diabetes alongside diarrhea, eczema, immune deficiency, and/or life-threatening infection, a FOXP3 gene mutation should be considered. This multi-system autoimmune picture — driven by immune dysregulation, polyendocrinopathy, and enteropathy — is the hallmark of IPEX syndrome and requires a distinct management pathway compared with other forms of monogenic diabetes.
Management centres on immunosuppressive therapy, with a cellular replacement strategy representing an established alternative for eligible patients.
The complete regimen — including agent selection, sequencing, and conditioning approach — is available in the full protocol.
DOI: 10.1111/pedi.13426
Mutations in the FOXP3 gene are responsible for the immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
Among male infants who present with diarrhea, eczema, autoimmune diabetes, immune deficiency, and/or life-threatening infection, mutations in FOXP3 should be considered.
Treatment with immunosuppressive agents (sirolimus or steroids).
Alternatively, allogeneic hematopoietic stem cell transplantation (HSCT) with reduced-intensity conditioning is recommended.
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