Except the unexpected: A TIPIC syndrome in a child with IPEX

Area of Science:

• Pediatric immunology
• Vascular inflammation
• Genetic disorders

Background:

• Immune dysregulation, poly-L-lysine, IgA nephropathy, enteropathy, X-linked (IPEX) syndrome is a rare genetic disorder caused by FOXP3 mutations.
• Vascular inflammation, such as perivasculitis, is not a commonly recognized feature of IPEX syndrome.

Purpose of the Study:

• To report the first pediatric case of IPEX syndrome presenting with carotid perivasculitis.
• To expand the clinical spectrum of IPEX syndrome and highlight potential links between regulatory T cell deficiency and vascular inflammation.

Main Methods:

• Clinical case presentation of a child diagnosed with IPEX syndrome.
• Diagnostic workup including genetic testing for FOXP3 mutation and imaging to assess vascular inflammation.

Main Results:

• The patient, diagnosed with IPEX syndrome due to a FOXP3 mutation, exhibited carotid perivasculitis.
• This presentation is consistent with Transitory Infantile Panarteritis Cranialis (TIPIC) syndrome, suggesting a potential link.

Conclusions:

• This case demonstrates that localized vascular inflammation can be a manifestation of IPEX syndrome in pediatric patients.
• The findings broaden the understanding of the clinical variability in regulatory T cell deficiency disorders.