Table 1 Timeline of symptomatic presentation
Age 0 to < 15 (years) | Age 15 to < 42 (years) | Age ≥ 42 (years) |
|---|---|---|
• Cyclic fevers with fatigue; average once weekly, self resolving 2–3 days • Otitis media; chronic • Polyarticular arthritis; knee, wrist, ankles • Abdominal pain; inconclusive endoscopy • Aphthous stomatitis | • Alopecia areata • Headaches; daily, inconclusive investigations including electroencephalogram (EEG) • Acneiform rash over face | • Relapse of cyclic fever, fatigue, polyarticular synovitis; every 1–2 weeks • Recurrent ulcers; genital and aphthous (HSV-1 confirmed on one oral swab) • Recurrent infections; pneumonia, otitis media, thrush, skin • Recurrent ocular swelling; onset age 44 years • Splenomegaly; found on CT age 44 years • Ongoing headaches, alopecia areata, and acneiform rash |