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GTR Home > Conditions/Phenotypes > Immunodeficiency 117

Immunodeficiency 117

Synonyms
IMMUNODEFICIENCY 117, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE

Summary

Immunodeficiency-117 (IMD117) is an autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood. Affected individuals develop mycobacterial disease after BCG (bacille Calmette-Guerin) vaccination and show increased susceptibility to other mycobacterial infections, such as M. avium. Immunologic workup shows impaired development of myeloid and lymphoid cell subsets that secrete and respond to gamma-interferon (IFNG; 147570) (et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IMD117, IRF-1, MAR, IRF1
    Summary: interferon regulatory factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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