Search Result

    View result in a comparision chart

    Ranked by occurance of the search terms
  • PLAID/FCAS3
    PLCG2-associated Antibody Deficiency & Immune Dysregulation (PLAID) – aka Familial Atypical Cold Urticaria (FACU) or FCAS3
    Onset in infancy-under 6 months of age. Lifelong symptoms, but some find the symptoms less severe in adulthood.
  • SAVI
    STING-associated vasculopathy with onset in infancy (SAVI)
    Infancy-before 8 weeks in most cases.
  • NOMID/CINCA (NLRP3-AID-severe)
    Neonatal Onset Multisystem Autoinflammatory Disease - aka Chronic Infantile Neurological Cutaneous Articular Syndrome (NLRP3-AID-severe)
    Neonatal/early infancy. Rash, symptoms, and abnormal labs are often present at birth.
  • MWS (NLRP3-AID-moderate)
    Muckle-Wells Syndrome (NLRP3-AID-moderate)
    Infancy, but a few present with symptoms later in childhood or adolescence.
  • AGS (includes subclassifications AGS1-7: see "Gene" area below)
    Aicardi-Goutieres syndrome(s) (subclassifications 1-7); aka Familial infantile encephalopathy, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis
    Encephalopathy is often the first symptom noted in the first year of life, with fevers, irritability and progressive neurologic changes with flares of symptoms. 40% of patients develop chilblains lesions, starting in early childhood. 20% of cases have AGS symptoms at birth, but most are asymptomatic at birth.
  • FCAS (NLRP3-AID-mild)
    Familial Cold Autoinflammatory Syndrome (NLRP3-AID-mild)
    Infancy, but a few present with symptoms later in childhood or adolescence.
  • NLRC4-AID, NLRC4-MAS
    NLRC4-associated Autoinflammatory Disease, NLRC4-associated Macrophage Activation-like Syndrome (NLRC4-MAS)
    Infancy, early childhood - some at birth.
  • NLRP12-AID, (aka FCAS2)
    NLRP12-associated Autoinflammatory Disease (NLRP12-AID), NLRP12-Associated Periodic Fever Syndrome – aka Familial Cold Autoinflammatory Syndrome 2 (FCAS2), or Guadeloupe Periodic Fever
    Neonatal/early infancy. Rash, fevers, symptoms may be present at birth.

  • New Search