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  • MWS (NLRP3-AID-moderate)
    Muckle-Wells Syndrome (NLRP3-AID-moderate)
    Infancy, but a few present with symptoms later in childhood or adolescence.
  • 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.
  • SLC29A3
    SLC29A3 Spectrum Disorder – aka H. syndrome; Pigmented Hypertrichosis with Insulin-dependent Diabetes Mellitus (IDDM); Faisalabad Histiocytosis and Sinus Histiocytosis with Massive Lymphadenopathy
    Onset in infancy-starting with recurrent fevers and flares. Chronic and progressive systemic symptoms develop.
  • 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.
  • SIFD
    Congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
    Most have symptoms present in the neonatal period or prior to 3 months of age. Once case with onset at 18 months.

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