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
Disease Ontology
DOID:0111994
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3455 IFNAR2 interferon alpha and beta receptor subunit 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P48551 Interferon alpha/beta receptor 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025