Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT)
Acronym:
PFIT
SAID group:
Details coming soon!
Gene:
WDR1
Inheritance:
autosomal recessive
Ethnicity:
Frequency:
Timing of symptoms:
Age of onset:
Skin cutaneous:
Neurologic:
Auditory:
Ophthalamic:
Cardiopulmonary:
Abdominal:
Lymphatic:
Joints bones muscles cartilage:
Vasculitis:
Amyloidosis:
Abnormal labs:
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Resources: