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GTR Home > Conditions/Phenotypes > Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Synonyms
Immunodeficiency 44
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-44 (IMD44) is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IMD44, ISGF-3, P113, PTORCH3, STAT113, STAT2
    Summary: signal transducer and activator of transcription 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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