immunodeficiency 90

A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white mat

A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13.

Signs and symptoms

• Encephalopathy
• Cerebral atrophy
• Seizure
• Elevated circulating alanine aminotransferase concentration
• Howell-Jolly bodies
• Increased circulating interleukin 10 concentration
• Recurrent infections
• Left superior vena cava draining directly to the left atrium
• Hepatic bridging fibrosis
• Portal inflammation

Also known as: immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction