Term Name: immunodeficiency 44
Synonyms: IMD44
Definition: 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.
Ontology: Human Disease [DOID:0111975]   ( DOID:0111975 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease