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Metadata
ID	DOID:0111975
Name	immunodeficiency 44
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. https://pubmed.ncbi.nlm.nih.gov/23391734/, https://pubmed.ncbi.nlm.nih.gov/26122121/
Xrefs	MIM:616636
Synonyms	IMD44 [EXACT]
Parent Relationships	is_a primary immunodeficiency disease is_a autosomal recessive disease