Term Name: | immunodeficiency 44 |
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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 ) |