Table 2.

Clinical features of patients who are carriers of the Q703K variant.

PatientFeverElevation of Acute-phase ReactantsUrticarial RashArthralgia/arthritisVisceromegaly/abdominal PainConjunctivitisHeadacheHearing LossPapilledemaTypical FaciesBone OvergrowthMental RetardationTreatmentFinal Diagnosis
S1++++/−−/−Steroids/NSAIDAlternative diagnosis
S2++++/−−/−Steroids/NSAIDAlternative diagnosis
S3++++/−−/−Steroids/NSAIDAlternative diagnosis
S4++++/−−/−++Steroids/NSAID/anti-TNF/anti-IL-1Alternative diagnosis
S5+−/−−/−++Steroids/NSAIDIdiopathic urticaria
S6++++/−−/−++NSAID/anti-TNF/anti-IL-1Alternative diagnosis
S7++++/−−/−+NSAID/anti-TNFAlternative diagnosis
S8++++/−−/−+NSAID/anti-IL-1Alternative diagnosis
S9++−/−−/−++NSAID/anti-IL-1Undifferentiated periodic fevers
S10++++/−−/−+Steroids/NSAID/colchicineAlternative diagnosis
S11++++/−−/−++Steroids/NSAIDAlternative diagnosis
S12++++/−−/−+Steroids/NSAIDAlternative diagnosis
S13++++/−−/−+Steroids/NSAIDAlternative diagnosis
S14++/−−/−Steroids/NSAIDIdiopathic urticaria
S15+++/+−/−Steroids/NSAIDAlternative diagnosis
S16++−/−−/−Steroids/NSAIDAlternative diagnosis
S17++−/−+/+Steroids/colchicineUndifferentiated periodic fevers
S18+−/−−/−Idiopathic urticaria
S19+−/−−/−Steroids/NSAIDIdiopathic urticaria
S20++++/+−/−Anti-IL-1SoJIA
S21++++/+−/−+Alternative diagnosis
S22++++/+−/−Anti-IL-1Alternative diagnosis
S23+−/−−/−Idiopathic urticaria
S24++++/−−/−+++++Steroids/NSAIDAlternative diagnosis
S25+++/−−/−+Steroids/NSAIDUndifferentiated periodic fevers
S26+++*+/+−/−+++++Anti-IL-1CINCA
S27++++/+−/−+Steroids/NSAID/CSA/MTX/AZA/MMF/anti-IL-1Alternative diagnosis
S28++++/+−/−Steroids/NSAID/CSA/MTX/Anti-TNF/anti-IL-1SoJIA
S29++++/+−/−+Steroids/anti-IL-1Alternative diagnosis
S30++++/+−/−Steroids/NSAID/MTX/anti-TNF/anti-IL-1SoJIA
S31+++/+−/−Steroids/CSA/colchicine/anti-IL-1Alternative diagnosis
S32++++/+−/−Steroids/NSAID/CSAAlternative diagnosis
S33++−/−+/+SteroidsUndifferentiated periodic fevers
S34+/−−/−+Steroids/NSAIDPrimary hypertrophic osteoarthropathy
S35++++/+−/−Steroids/NSAID/anti-IL-1Alternative diagnosis
S36++++/+−/−Anti-IL-1MWS
  • * Absence of typical daily urticarial rash, few episodes of diffuse erythematous rash at limbs. NSAID: nonsteroidal antiinflammatory drugs; anti-TNF: antitumor necrosis factor; anti-IL-1: anti-interleukin 1; CSA: cyclosporine A; MTX: methotrexate; AZA: azathioprine; MMF: mycophenolate mofetil; SoJIA: systemic-onset juvenile idiopathic arthritis; CINCA: chronic infantile neurologic, cutaneous, articular syndrome; MWS: Muckle-Wells syndrome.