Recurrent fevers in children: TRAPS for young players

Area of Science:

• Genetics
• Immunology
• Pediatrics

Background:

• Autoinflammatory diseases are a group of inherited disorders characterized by recurrent episodes of inflammation.
• Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by mutations in the TNFRSF1A gene.

Observation:

• An 11-month-old girl presented with recurrent febrile episodes.
• Genetic analysis revealed a novel mutation in the TNFRSF1A gene.

Findings:

• The patient was diagnosed with tumour necrosis factor receptor-associated periodic syndrome (TRAPS).
• The identified mutation is a previously undescribed variant within the TNFRSF1A gene.

Implications:

• This case expands the known spectrum of TNFRSF1A mutations associated with TRAPS.
• Understanding novel mutations aids in accurate diagnosis and genetic counseling for autoinflammatory diseases.
• Reviewing management strategies is crucial for improving patient outcomes in TRAPS.