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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 STAT2 on chromosome 12q13.3.
https://pubmed.ncbi.nlm.nih.gov/23391734/, https://pubmed.ncbi.nlm.nih.gov/26122121/
Xrefs

OMIM:616636

Synonyms

IMD44 [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

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