immunodeficiency 44

A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heter

A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3.

Signs and symptoms

• Elevated CSF neopterin level
• Decreased total lymphocyte count
• Decreased circulating IgA concentration
• Severe viral infection
• Decreased circulating IgM concentration
• Increased circulating lactate concentration
• Elevated circulating alanine aminotransferase concentration
• Post-vaccination measles
• Encephalopathy
• Abnormal circulating IgG concentration

Also known as: IMD44