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GTR Home > Conditions/Phenotypes > Immunodeficiency 35

Immunodeficiency 35

Synonyms
Familial Atypical Mycobacteriosis, TYK2-Related; HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; Susceptibility to infection due to TYK2 deficiency; TYK2 DEFICIENCY; Tyrosine kinase 2 deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-35 (IMD35) is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Fungal infections are not observed. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways (summary by Kreins et al., 2015). [from OMIM]

Available tests

20 tests are in the database for this condition.

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Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IMD35, JTK1, TYK2
    Summary: tyrosine kinase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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