Patient | Clinical picture/NALP3mutation - Clinical symptom | Weight (kg) | CRP (mg/L) | SAA (mg/L) | Previous anakinra use/response | Physician's global assessment of disease activity |
---|---|---|---|---|---|---|
1 | MWS/V198M - pyrexia, conjunctivitis, headache, abdominal pain, arthralgia and lassitude | 17.2 | 8.2 | 1.8 | Yes/No* | Moderate |
2 | MWS/E311K- aphthae, stomach pain, fatigue, loss of energy, headache, conjunctivitis, myalgia, fever peaks, beginning of hearing deficit and arthralgia during night. | 18.1 | 2.0 | 2.1 | Yes/Partial** | Moderate |
3 | MWS/T348M- Vomiting | 23.3 | 39.0# | 74.0# | Yes/Yes | Moderate |
4 | MWS/V198M - Low level of immunoglobulins, pyrexia, sensitivity to infection, coldness exposed exanthema, conjunctivitis, headache, oral aphthae, abdominal pain, myalgia and fatigue. | 24.1 | 0.2 | 2.9 | Yes/Yes | Moderate |
5 | MWS/E311K - exanthema, myalgia, conjunctivitis, attention deficit, headache, lack of concentration, oral aphthae, fatigue and hearing deficiency | 35.3 | 9.9 | 14.1 | No | Moderate |
6† | NOMID/T348M - urticarial rash, hepatomegaly, pyrexia, anemia, headache, stomach pain, malaise, nausea, fatigue, conjunctivitis, high frequency hearing loss (1 KHz), sterile meningitis, papilloedema, growth retardation, bilateral reduced visual acuity, knee arthritis, back pain, myalgia, leucocytosis, and thrombocytosis | 48.6 | 38.9 | 198.0 | Yes/Yes | Moderate |
7† | NOMID/G569R - exanthema, papillar edema, pseudo-tumor cerebri, hearing loss, arthritis, enlarged inner and outer liquor cavities, morphologically elevated bilateral intraocular pressure, and an enlarged blind spot in the visual field | 52.0 | 65.6 | 151.0 | Yes/Yes | Moderate |