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GTR Home > Conditions/Phenotypes > Immunodeficiency 83, susceptibility to viral infections

Immunodeficiency 83, susceptibility to viral infections

Synonyms
Herpes simplex encephalitis 2

Summary

Immunodeficiency-83 (IMD83) is characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). The age at onset varies widely from infancy to adulthood, and there is incomplete penetrance. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system (CNS) or lung epithelial cells (review by Zhang et al., 2013; summary by Mork et al., 2015; Sironi et al., 2017, Lim et al., 2019, Partanen et al., 2020). For a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see 610551. [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD283, IIAE2, IMD83, TLR3
    Summary: toll like receptor 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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