immunodeficiency 44 (DOID:0111975)
Alliance: disease page
Synonyms: IMD44
Alt IDs: OMIM:616636
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.