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immunodeficiency 45
Summary
- Synonym
-
- IMD45
- Definition
- A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11.
- Super Class
- autosomal recessive disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0111994
- Mondo Disease Ontology
- OMIM
